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▍次世代定序(next-generation sequencing, NGS)
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NGS for Inborn error

 

NGS for inborn error

Fatty Acid Oxidation Disorder Panel (19 Genes)
Title Phenotype Inheritance
ETFB glutaric acidemia iib AR
GLUD1 hyperinsulinism-hyperammonemia syndrome AD
HADHB trifunctional protein deficiency AR
ETFDH glutaric acidemia iic AR
HSD17B10 hsd10 mitochondrial disease XLD
TAZ barth syndrome XLR
CPT1A cpt deficiency, hepatic, type ia AR
CPT2 {encephalopathy, acute, infection-induced, 4, susceptibility to} AD, AR
CPT2 cpt ii deficiency, infantile AR
CPT2 cpt ii deficiency, lethal neonatal AR
CPT2 cpt ii deficiency, myopathic, stress-induced AD, AR
HADHA fatty liver, acute, of pregnancy AR
HADHA hellp syndrome, maternal, of pregnancy AR
HADHA lchad deficiency AR
HADHA trifunctional protein deficiency AR
PPARG [obesity, resistance to]  
PPARG {diabetes, type 2} AD
PPARG insulin resistance, severe, digenic AD
PPARG lipodystrophy, familial partial, type 3 AD
PPARG obesity, severe AD, AR, Mu
HADH 3-hydroxyacyl-coa dehydrogenase deficiency AR
HADH hyperinsulinemic hypoglycemia, familial, 4 AR
SLC22A5 carnitine deficiency, systemic primary AR
ACADS acyl-coa dehydrogenase, short-chain, deficiency of AR
ACADM acyl-coa dehydrogenase, medium chain, deficiency of AR
ETFA glutaric acidemia iia AR
ACADVL vlcad deficiency AR
ACAD9 mitochondrial complex i deficiency, nuclear type 20 AR
SLC25A20 carnitine-acylcarnitine translocase deficiency AR
HMGCL hmg-coa lyase deficiency AR

Glycogen Storage Disease Panel (21 Genes)
Title Phenotype Inheritance
ALDOA glycogen storage disease xii AR
ENO3 ?glycogen storage disease xiii AR
GYS1 glycogen storage disease 0, muscle AR
GYS2 glycogen storage disease 0, liver AR
LDHA glycogen storage disease xi AR
PHKG2 cirrhosis due to liver phosphorylase kinase deficiency  
PHKG2 glycogen storage disease ixc AR
PHKB phosphorylase kinase deficiency of liver and muscle, autosomal recessive AR
PHKA2 glycogen storage disease, type ixa1 XLR
PHKA2 glycogen storage disease, type ixa2 XLR
PHKA1 muscle glycogenosis XLR
SLC37A4 glycogen storage disease ib AR
SLC37A4 glycogen storage disease ic AR
PRKAG2 wolff-parkinson-white syndrome AD
GYG1 ?glycogen storage disease xv AR
GYG1 polyglucosan body myopathy 2 AR
GAA glycogen storage disease ii AR
GBE1 glycogen storage disease iv AR
GBE1 polyglucosan body disease, adult form AR
PYGM mcardle disease AR
PFKM glycogen storage disease vii AR
AGL glycogen storage disease iiia AR
AGL glycogen storage disease iiib AR
PGAM2 glycogen storage disease x AR
G6PC glycogen storage disease ia AR
PYGL glycogen storage disease vi AR

Maple Syrup Urine Disease Panel (4 Genes)
Title Phenotype Inheritance
DLD dihydrolipoamide dehydrogenase deficiency AR
BCKDHB maple syrup urine disease, type ib AR
DBT maple syrup urine disease, type ii AR
BCKDHA maple syrup urine disease, type ia AR

 

Methylmalonic Acidemia Panel (15 Genes)
Title Phenotype Inheritance
MTR {neural tube defects, folate-sensitive, susceptibility to} AR
MTR homocystinuria-megaloblastic anemia, cblg complementation type AR
MTRR {neural tube defects, folate-sensitive, susceptibility to} AR
MTRR homocystinuria-megaloblastic anemia, cbl e type AR
ABCD4 methylmalonic aciduria and homocystinuria, cblj type AR
CD320 methylmalonic aciduria, transient, due to transcobalamin receptor defect  
MLYCD malonyl-coa decarboxylase deficiency AR
MMAA methylmalonic aciduria, vitamin b12-responsive AR
MMAB methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type AR
MCEE methylmalonyl-coa epimerase deficiency AR
MMACHC methylmalonic aciduria and homocystinuria, cblc type AR
MMADHC homocystinuria, cbld type, variant 1 AR
MMADHC methylmalonic aciduria and homocystinuria, cbld type AR
MMADHC methylmalonic aciduria, cbld type, variant 2 AR
LMBRD1 methylmalonic aciduria and homocystinuria, cblf type AR
ACSF3 combined malonic and methylmalonic aciduria  
MMUT Methylmalonic aciduria, mut(0) type AR

 

Non Ketotic Hyperglycinemia Panel (3 Genes)
Title Phenotype Inheritance
GLDC glycine encephalopathy AR
AMT glycine encephalopathy AR
GCSH ?glycine encephalopathy AR

 

Urea Cycle Disorder Panel (6 Genes)
Title Phenotype Inheritance
OTC ornithine transcarbamylase deficiency XLR
ASS1 citrullinemia AR
NAGS n-acetylglutamate synthase deficiency AR
ARG1 argininemia AR
CPS1 {pulmonary hypertension, neonatal, susceptibility to}  
CPS1 carbamoylphosphate synthetase i deficiency AR
ASL argininosuccinic aciduria AR
SLC25A13= CITRIN citrullinemia, adult-onset type ii AR
SLC25A13= CITRIN citrullinemia, type ii, neonatal-onset AR
OTC ornithine transcarbamylase deficiency XLR

 

Hypophosphatasia (1 Gene)
Title Phenotype Inheritance
ALPL hypophosphatasia, adult AD, AR
ALPL hypophosphatasia, childhood AR
ALPL hypophosphatasia, infantile AR
ALPL odontohypophosphatasia AD, AR

Hypophosphatemic Rickets NGS Panel (10 Genes)
Title Phenotype Inheritance
ENPP1 {diabetes mellitus, non-insulin-dependent, susceptibility to} AD
ENPP1 {obesity, susceptibility to} AD, AR, Mu
ENPP1 arterial calcification, generalized, of infancy, 1 AR
ENPP1 cole disease AD
ENPP1 hypophosphatemic rickets, autosomal recessive, 2 AR
SLC34A1 ?fanconi renotubular syndrome 2 AR
SLC34A1 hypercalcemia, infantile, 2 AR
SLC34A1 nephrolithiasis/osteoporosis, hypophosphatemic, 1 AD
CLCN5 dent disease XLR
CLCN5 hypophosphatemic rickets XLR
CLCN5 nephrolithiasis, type i XLR
CLCN5 proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis XLR
PHEX hypophosphatemic rickets, x-linked dominant XLD
DMP1 hypophosphatemic rickets, ar AR
VDR ?osteoporosis, involutional AD
VDR rickets, vitamin d-resistant, type iia AR
KL ?tumoral calcinosis, hyperphosphatemic, familial, 3  
FGF23 hypophosphatemic rickets, autosomal dominant AD
FGF23 osteomalacia, tumor-induced  
FGF23 tumoral calcinosis, hyperphosphatemic, familial, 2  
SLC34A3 hypophosphatemic rickets with hypercalciuria AR
FAH tyrosinemia, type i AR

Hypomagnesemia NGS Panel
Title Phenotype Inheritance
CASR {epilepsy idiopathic generalized, susceptibility to, 8}  
CASR hyperparathyroidism, neonatal AD, AR
CASR hypocalcemia, autosomal dominant AD
CASR hypocalcemia, autosomal dominant, with bartter syndrome AD
CASR hypocalciuric hypercalcemia, type i AD
CLCNKB bartter syndrome, type 3 AR
CLCNKB bartter syndrome, type 4b, digenic DR
CLDN16 hypomagnesemia 3, renal AR
CLDN19 hypomagnesemia 5, renal, with ocular involvement AR
CNNM1    
CNNM2 hypomagnesemia 6, renal AD
CNNM2 hypomagnesemia, seizures, and mental retardation AD, AR
CNNM4 jalili syndrome AR
EGF hypomagnesemia 4, renal  
FAM111A gracile bone dysplasia AD
FAM111A kenny-caffey syndrome, type 2 AD
FXYD2 hypomagnesemia 2, renal AD
HNF1B {renal cell carcinoma}  
HNF1B diabetes mellitus, noninsulin-dependent AD
HNF1B renal cysts and diabetes syndrome AD
KCNA1 episodic ataxia/myokymia syndrome AD
KCNJ10 enlarged vestibular aqueduct, digenic AR
KCNJ10 sesame syndrome AR
MAGT1 congenital disorder of glycosylation, type icc XLR
MAGT1 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia XLR
MMGT1    
NIPA2    
PCBD1 hyperphenylalaninemia, bh4-deficient, d AR
SARS2 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis AR
SLC12A3 gitelman syndrome AR
SLC41A2    
SLC41A3    
TRPM6 hypomagnesemia 1, intestinal AR
TRPM7 {amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to} AD

Hypoparathyroidism NGS Panel
Title Phenotype Inheritance
AIRE autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia AD, AR
AP2S1 hypocalciuric hypercalcemia, type iii AD
CASR {epilepsy idiopathic generalized, susceptibility to, 8}  
CASR hyperparathyroidism, neonatal AD, AR
CASR hypocalcemia, autosomal dominant AD
CASR hypocalcemia, autosomal dominant, with bartter syndrome AD
CASR hypocalciuric hypercalcemia, type i AD
FAM111A gracile bone dysplasia AD
FAM111A kenny-caffey syndrome, type 2 AD
GATA3 hypoparathyroidism, sensorineural deafness, and renal dysplasia AD
GCM2 hyperparathyroidism 4 AD
GCM2 hypoparathyroidism, familial isolated AD, AR
GNA11 hypocalcemia, autosomal dominant 2 AD
GNA11 hypocalciuric hypercalcemia, type ii AD
GNAS acth-independent macronodular adrenal hyperplasia SMu
GNAS mccune-albright syndrome, somatic, mosaic  
GNAS osseous heteroplasia, progressive AD
GNAS pituitary adenoma 3, multiple types, somatic  
GNAS pseudohypoparathyroidism ia AD
GNAS pseudohypoparathyroidism ib AD
GNAS pseudohypoparathyroidism ic AD
GNAS pseudopseudohypoparathyroidism AD
HADHA fatty liver, acute, of pregnancy AR
HADHA hellp syndrome, maternal, of pregnancy AR
HADHA lchad deficiency AR
HADHA trifunctional protein deficiency AR
HADHB trifunctional protein deficiency AR
PTH hypoparathyroidism, autosomal dominant AD, AR
PTH hypoparathyroidism, autosomal recessive AD, AR
PTH1R chondrodysplasia, blomstrand type AR
PTH1R eiken syndrome AR
PTH1R failure of tooth eruption, primary AD
PTH1R metaphyseal chondrodysplasia, murk jansen type AD
SOX3 mental retardation, x-linked, with isolated growth hormone deficiency  
SOX3 panhypopituitarism, x-linked XL
STX16 pseudohypoparathyroidism, type ib AD
TBCE encephalopathy, progressive, with amyotrophy and optic atrophy AR
TBCE hypoparathyroidism-retardation-dysmorphism syndrome AR
TBCE kenny-caffey syndrome, type 1 AR

 

CentoLSD Enzyme Panel X-TRA (20 Genes)
Title Phenotype Inheritance
LIPA Cholesteryl ester storage disease AR
LIPA Wolman disease AR
GAA Glycogen storage disease II AR
SMPD1 Niemann-Pick disease, type A AR
SMPD1 Niemann-Pick disease, type B AR
FUCA1 Fucosidosis AR
GLA Fabry disease XL
GLA Fabry disease, cardiac variant XL
IDUA Mucopolysaccharidosis Ih AR
IDUA Mucopolysaccharidosis Ih/s AR
IDUA Mucopolysaccharidosis Is AR
MAN2B1 Mannosidosis, alpha-, types I and II AR
NAGA Kanzaki disease AR
NAGA Schindler disease, type I AR
NAGA Schindler disease, type III AR
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy) AR
GLB1 GM1-gangliosidosis, type I AR
GLB1 GM1-gangliosidosis, type II AR
GLB1 GM1-gangliosidosis, type III AR
GLB1 Mucopolysaccharidosis type IVB (Morquio) AR
GBA {Lewy body dementia, susceptibility to} AD
GBA {Parkinson disease, late-onset, susceptibility to} AD, Mu
GBA Gaucher disease, perinatal lethal AR
GBA Gaucher disease, type I AR
GBA Gaucher disease, type II AR
GBA Gaucher disease, type III AR
GBA Gaucher disease, type IIIC AR
GUSB Mucopolysaccharidosis VII AR
HEXA [Hex A pseudodeficiency] AR
HEXA GM2-gangliosidosis, several forms AR
HEXA Tay-Sachs disease AR
MANBA Mannosidosis, beta AR
HEXB Sandhoff disease, infantile, juvenile, and adult forms AR
IDS Mucopolysaccharidosis II XLR
NAGLU ?Charcot-Marie-Tooth disease, axonal, type 2V AD
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B) AR
GALNS Mucopolysaccharidosis IVA AR
CLN1/PPT1 Ceroid lipofuscinosis, neuronal, 1 AR
CLN2/TPP1 Ceroid lipofuscinosis, neuronal, 2 AR
TPP1 Spinocerebellar ataxia, autosomal recessive 7 AR

Congenital Disorders of Glycosylation NGS Panel
Title Phenotype Inheritance
ALG1 congenital disorder of glycosylation, type ik AR
ALG11 congenital disorder of glycosylation, type ip AR
ALG12 congenital disorder of glycosylation, type ig AR
ALG13 ?congenital disorder of glycosylation, type is XLD
ALG13 epileptic encephalopathy, early infantile, 36 XLD
ALG2 ?congenital disorder of glycosylation, type ii AR
ALG2 myasthenic syndrome, congenital, 14, with tubular aggregates AR
ALG3 congenital disorder of glycosylation, type id AR
ALG6 congenital disorder of glycosylation, type ic AR
ALG8 congenital disorder of glycosylation, type ih AR
ALG8 polycystic liver disease 3 with or without kidney cysts AD
ALG9 congenital disorder of glycosylation, type il AR
ALG9 gillessen-kaesbach-nishimura syndrome AR
ATP6V0A2 cutis laxa, autosomal recessive, type iia AR
ATP6V0A2 wrinkly skin syndrome AR
B3GLCT peters-plus syndrome AR
B4GALT1 congenital disorder of glycosylation, type iid AR
COG1 congenital disorder of glycosylation, type iig AR
COG4 congenital disorder of glycosylation, type iij AR
COG4 saul-wilson syndrome AD
COG5 congenital disorder of glycosylation, type iii  
COG6 congenital disorder of glycosylation, type iil AR
COG6 shaheen syndrome AR
COG7 congenital disorder of glycosylation, type iie AR
COG8 congenital disorder of glycosylation, type iih  
DDOST ?congenital disorder of glycosylation, type ir AR
DHDDS ?congenital disorder of glycosylation, type 1bb AR
DHDDS developmental delay and seizures with or without movement abnormalities AD
DHDDS retinitis pigmentosa 59 AR
DOLK congenital disorder of glycosylation, type im AR
DPAGT1 congenital disorder of glycosylation, type ij AR
DPAGT1 myasthenic syndrome, congenital, 13, with tubular aggregates AR
DPM1 congenital disorder of glycosylation, type ie AR
DPM2 congenital disorder of glycosylation, type iu AR
DPM3 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15 AR
FUT8 congenital disorder of glycosylation with defective fucosylation 1 AR
GMPPA alacrima, achalasia, and mental retardation syndrome AR
GNE nonaka myopathy AR
GNE sialuria AD
MAGT1 congenital disorder of glycosylation, type icc XLR
MAGT1 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia XLR
MAN1B1 mental retardation, autosomal recessive 15 AR
MGAT2 congenital disorder of glycosylation, type iia AR
MOGS congenital disorder of glycosylation, type iib AR
MPDU1 congenital disorder of glycosylation, type if AR
MPI congenital disorder of glycosylation, type ib AR
NGLY1 congenital disorder of deglycosylation AR
PGM1 congenital disorder of glycosylation, type it AR
PMM2 congenital disorder of glycosylation, type ia AR
RFT1 congenital disorder of glycosylation, type in AR
SEC23B ?cowden syndrome 7 AD
SEC23B dyserythropoietic anemia, congenital, type ii AR
SLC35A1 congenital disorder of glycosylation, type iif AR
SLC35A2 congenital disorder of glycosylation, type iim SMo, XLD
SLC35C1 congenital disorder of glycosylation, type iic AR
SRD5A3 congenital disorder of glycosylation, type iq AR
SRD5A3 kahrizi syndrome AR
SSR4 congenital disorder of glycosylation, type iy XLR
STT3A ?congenital disorder of glycosylation, type iw AR
STT3B ?congenital disorder of glycosylation, type ix AR
TMEM165 congenital disorder of glycosylation, type iik AR
TUSC3 mental retardation, autosomal recessive 7 AR

 

Hyperphenylalaninemia NGS Panel
Title Phenotype Inheritance
GCH1 dystonia, dopa-responsive, with or without hyperphenylalaninemia AD, AR
GCH1 hyperphenylalaninemia, bh4-deficient, b AR
PAH [hyperphenylalaninemia, non-pku mild] AR
PAH phenylketonuria AR
PCBD1 hyperphenylalaninemia, bh4-deficient, d AR
PTS hyperphenylalaninemia, bh4-deficient, a AR
QDPR hyperphenylalaninemia, bh4-deficient, c AR
SPR dystonia, dopa-responsive, due to sepiapterin reductase deficiency ?AD, AR

 

Organic Acidemias Panel

Title Phenotype Inheritance
GCH1 dystonia, dopa-responsive, with or without hyperphenylalaninemia AD, AR
GCH1 hyperphenylalaninemia, bh4-deficient, b AR
PAH [hyperphenylalaninemia, non-pku mild] AR
PAH phenylketonuria AR
PCBD1 hyperphenylalaninemia, bh4-deficient, d AR
PTS hyperphenylalaninemia, bh4-deficient, a AR
QDPR hyperphenylalaninemia, bh4-deficient, c AR
SPR dystonia, dopa-responsive, due to sepiapterin reductase deficiency ?AD, AR
Gene Phenotype
ACAD8 isobutyryl-coa dehydrogenase deficiency
ACADSB 2-methylbutyrylglycinuria
ACAT1 alpha-methylacetoacetic aciduria
ACSF3 combined malonic and methylmalonic aciduria
ASPA canavan disease
AUH 3-methylglutaconic aciduria, type i
BCKDHA maple syrup urine disease, type ia
BCKDHB maple syrup urine disease, type ib
BTD biotinidase deficiency
D2HGDH d-2-hydroxyglutaric aciduria
DBT maple syrup urine disease, type ii
DNAJC19 3-methylglutaconic aciduria, type v
ETFA glutaric acidemia iia
ETFB glutaric acidemia iib
ETFDH glutaric acidemia iic
ETHE1 ethylmalonic encephalopathy
FBP1 fructose-1,6-bisphosphatase deficiency
FTCD glutamate formiminotransferase deficiency
GCDH glutaricaciduria, type i
GSS glutathione synthetase deficiency
GSS hemolytic anemia due to glutathione synthetase deficiency
HIBCH 3-hydroxyisobutryl-coa hydrolase deficiency
HLCS holocarboxylase synthetase deficiency
HMGCL hmg-coa lyase deficiency
HSD17B10 hsd10 mitochondrial disease
IDH2 d-2-hydroxyglutaric aciduria 2
IVD isovaleric acidemia
L2HGDH l-2-hydroxyglutaric aciduria
MCCC1 3-methylcrotonyl-coa carboxylase 1 deficiency
MCCC2 3-methylcrotonyl-coa carboxylase 2 deficiency
MCEE methylmalonyl-coa epimerase deficiency
MLYCD malonyl-coa decarboxylase deficiency
MMAA methylmalonic aciduria, vitamin b12-responsive
MMAB methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type
MMACHC methylmalonic aciduria and homocystinuria, cblc type
MMADHC homocystinuria, cbld type, variant 1
MMADHC methylmalonic aciduria and homocystinuria, cbld type
MMADHC methylmalonic aciduria, cbld type, variant 2
MUT methylmalonic aciduria, mut(0) type
OPA3 3-methylglutaconic aciduria, type iii
OPA3 optic atrophy 3 with cataract
OPLAH 5-oxoprolinase deficiency
OXCT1 succinyl coa:3-oxoacid coa transferase deficiency
PCCA propionicacidemia
PCCB propionicacidemia
POLG mitochondrial dna depletion syndrome 4a (alpers type)
POLG mitochondrial dna depletion syndrome 4b (mngie type)
POLG mitochondrial recessive ataxia syndrome (includes sando and scae)
POLG progressive external ophthalmoplegia, autosomal dominant 1
POLG progressive external ophthalmoplegia, autosomal recessive 1
PPM1K ?maple syrup urine disease, mild variant
SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome
SLC25A1 ?myasthenic syndrome, congenital, 23, presynaptic
SLC25A1 combined d-2- and l-2-hydroxyglutaric aciduria
SUCLA2 mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
SUCLG1 mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
TAZ barth syndrome
TMEM70 mitochondrial complex v (atp synthase) deficiency, nuclear type 2

Kreb Cycle Defect Genes (7 genes)
Title Phenotype Inheritance
DHTKD1 ?charcot-marie-tooth disease, axonal, type 2q AD
DHTKD1 2-aminoadipic 2-oxoadipic aciduria AR
DLD dihydrolipoamide dehydrogenase deficiency AR
FH fumarase deficiency AR
FH leiomyomatosis and renal cell cancer AD
NFU1 multiple mitochondrial dysfunctions syndrome 1 AR
OGDH alpha-ketoglutarate dehydrogenase deficiency AR
SLC13A5 epileptic encephalopathy, early infantile, 25 AR
SLC25A19 microcephaly, amish type AR
SLC25A19 thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) AR

 

Hyperinsulinism NGS Panel
Title Phenotype Inheritance
ABCC8 diabetes mellitus, noninsulin-dependent AD
ABCC8 diabetes mellitus, permanent neonatal AD, AR
ABCC8 diabetes mellitus, transient neonatal 2  
ABCC8 hyperinsulinemic hypoglycemia, familial, 1 AD, AR
ABCC8 hypoglycemia of infancy, leucine-sensitive AD
AKT2 diabetes mellitus, type ii AD
AKT2 hypoinsulinemic hypoglycemia with hemihypertrophy AD
AKT3 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 AD
ALG3 congenital disorder of glycosylation, type id AR
ALG6 congenital disorder of glycosylation, type ic AR
GCK diabetes mellitus, noninsulin-dependent, late onset AD
GCK diabetes mellitus, permanent neonatal AD, AR
GCK hyperinsulinemic hypoglycemia, familial, 3 AD
GCK mody, type ii AD
GLUD1 hyperinsulinism-hyperammonemia syndrome AD
HADH 3-hydroxyacyl-coa dehydrogenase deficiency AR
HADH hyperinsulinemic hypoglycemia, familial, 4 AR
HK1 hemolytic anemia due to hexokinase deficiency AR
HK1 neurodevelopmental disorder with visual defects and brain anomalies AD
HK1 neuropathy, hereditary motor and sensory, russe type AR
HK1 retinitis pigmentosa 79 AD
HNF1A {diabetes mellitus, insulin-dependent} AR
HNF1A {diabetes mellitus, noninsulin-dependent, 2} AD
HNF1A diabetes mellitus, insulin-dependent, 20  
HNF1A hepatic adenoma, somatic  
HNF1A mody, type iii AD
HNF1A renal cell carcinoma  
HNF4A {diabetes mellitus, noninsulin-dependent} AD
HNF4A fanconi renotubular syndrome 4, with maturity-onset diabetes of the young AD
HNF4A mody, type i AD
INS diabetes mellitus, insulin-dependent, 2 AD
INS diabetes mellitus, permanent neonatal AD, AR
INS hyperproinsulinemia AD
INS maturity-onset diabetes of the young, type 10 AD
INSR diabetes mellitus, insulin-resistant, with acanthosis nigricans  
INSR hyperinsulinemic hypoglycemia, familial, 5 AD
INSR leprechaunism AR
INSR rabson-mendenhall syndrome AR
KCNJ11 {diabetes mellitus, type 2, susceptibility to} AD
KCNJ11 diabetes mellitus, transient neonatal, 3 AD
KCNJ11 diabetes, permanent neonatal, with or without neurologic features AD, AR
KCNJ11 hyperinsulinemic hypoglycemia, familial, 2 AR
KCNJ11 maturity-onset diabetes of the young, type 13 AD
MPI congenital disorder of glycosylation, type ib AR
PDX1 {diabetes mellitus, type ii, susceptibility to} AD
PDX1 mody, type iv  
PDX1 pancreatic agenesis 1 AR
PGM1 congenital disorder of glycosylation, type it AR
PMM2 congenital disorder of glycosylation, type ia AR
SLC16A1 erythrocyte lactate transporter defect AD
SLC16A1 hyperinsulinemic hypoglycemia, familial, 7 AD
SLC16A1 monocarboxylate transporter 1 deficiency AD, AR
UCP2 {obesity, susceptibility to, bmiq4}  
USH1C deafness, autosomal recessive 18a AR
USH1C usher syndrome, type 1c AR

 

Porphyria Disorders NGS Panel
Title Phenotype Inheritance
ALAD {lead poisoning, susceptibility to} AR
ALAD porphyria, acute hepatic AR
ALAS2 anemia, sideroblastic, 1 XLR
ALAS2 protoporphyria, erythropoietic, x-linked XL
C15orf41    
CPOX coproporphyria AD
CPOX harderoporphyria AD
FECH protoporphyria, erythropoietic, 1 AR
HFE [transferrin serum level qtl2]  
HFE {alzheimer disease, susceptibility to} AD
HFE {microvascular complications of diabetes 7}  
HFE {porphyria cutanea tarda, susceptibility to} AD, AR
HFE {porphyria variegata, susceptibility to} AD
HFE hemochromatosis AR
HMBS porphyria, acute intermittent AD
HMBS porphyria, acute intermittent, nonerythroid variant AD
PPOX porphyria variegata AD
SLC19A2 thiamine-responsive megaloblastic anemia syndrome AR
UROD porphyria cutanea tarda AD, AR
UROD porphyria, hepatoerythropoietic AD, AR
UROS porphyria, congenital erythropoietic AR

Peroxisomal Disorders Panel
Title Phenotype Inheritance
ABCD1 adrenoleukodystrophy XLR
ABCD1 adrenomyeloneuropathy, adult XLR
ABCD3 ?bile acid synthesis defect, congenital, 5 AR
ACOX1 peroxisomal acyl-coa oxidase deficiency AR
AGPS rhizomelic chondrodysplasia punctata, type 3 AR
AGXT hyperoxaluria, primary, type 1 AR
AMACR alpha-methylacyl-coa racemase deficiency AR
AMACR bile acid synthesis defect, congenital, 4 AR
DYM dyggve-melchior-clausen disease AR
DYM smith-mccort dysplasia AR
EBP chondrodysplasia punctata, x-linked dominant XLD
EBP mend syndrome XLR
GNPAT rhizomelic chondrodysplasia punctata, type 2 AR
HSD17B4 d-bifunctional protein deficiency AR
HSD17B4 perrault syndrome 1 AR
PEX1 heimler syndrome 1 AR
PEX1 peroxisome biogenesis disorder 1a (zellweger) AR
PEX1 peroxisome biogenesis disorder 1b (nald/ird) AR
PEX10 peroxisome biogenesis disorder 6a (zellweger) AR
PEX10 peroxisome biogenesis disorder 6b AR
PEX11B    
PEX12 peroxisome biogenesis disorder 3a (zellweger) AR
PEX12 peroxisome biogenesis disorder 3b AR
PEX13 peroxisome biogenesis disorder 11a (zellweger) AR
PEX13 peroxisome biogenesis disorder 11b AR
PEX14 peroxisome biogenesis disorder 13a (zellweger) AR
PEX16 peroxisome biogenesis disorder 8a (zellweger) AR
PEX16 peroxisome biogenesis disorder 8b AR
PEX19 peroxisome biogenesis disorder 12a (zellweger) AR
PEX2 peroxisome biogenesis disorder 5a (zellweger) AR
PEX2 peroxisome biogenesis disorder 5b AR
PEX26 peroxisome biogenesis disorder 7a (zellweger) AR
PEX26 peroxisome biogenesis disorder 7b AR
PEX3 ?peroxisome biogenesis disorder 10b AR
PEX3 peroxisome biogenesis disorder 10a (zellweger) AR
PEX5 peroxisome biogenesis disorder 2a (zellweger) AR
PEX5 peroxisome biogenesis disorder 2b AR
PEX5 rhizomelic chondrodysplasia punctata, type 5 AR
PEX6 heimler syndrome 2 AR
PEX6 peroxisome biogenesis disorder 4a (zellweger) AR
PEX6 peroxisome biogenesis disorder 4b AD, AR
PEX7 peroxisome biogenesis disorder 9b AR
PEX7 rhizomelic chondrodysplasia punctata, type 1 AR
PHYH refsum disease AR
SUGCT glutaric aciduria iii AR
TRIM37 mulibrey nanism AR

Ketone Body Metabolism Deficiency NGS Panel
Title Phenotype Inheritance
ACAT1 alpha-methylacetoacetic aciduria AR
ACAT2 ?acat2 deficiency IC
HMGCL hmg-coa lyase deficiency AR
HMGCS2 hmg-coa synthase-2 deficiency AR
OXCT1 succinyl coa:3-oxoacid coa transferase deficiency  

Hypoglycemia Galactose-Fructose-Metabolism NGS Panel
Title Phenotype Inheritance
ALDOB fructose intolerance, hereditary AR
GALE galactose epimerase deficiency AR
GALK1 galactokinase deficiency with cataracts AR
GALT galactosemia AR

 

Creatine Deficiency NGS Panel
Title Phenotype Inheritance
GAMT cerebral creatine deficiency syndrome 2 AR
GATM cerebral creatine deficiency syndrome 3 AR
SLC6A8 cerebral creatine deficiency syndrome 1 XLR

Tyrosinemia NGS Panel
Title Phenotype Inheritance
FAH tyrosinemia, type i AR
GSTZ1 [maleylacetoacetate isomerase deficiency] AR
HPD hawkinsinuria AD
HPD tyrosinemia, type iii AR
TAT tyrosinemia, type ii AR

Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel
Title Phenotype Inheritance
FAH tyrosinemia, type i AR
GSTZ1 [maleylacetoacetate isomerase deficiency] AR
HPD hawkinsinuria AD
HPD tyrosinemia, type iii AR
TAT tyrosinemia, type ii AR
Gene Phenotype Inheritance
ABCD4 methylmalonic aciduria and homocystinuria, cblj type AR
ACSF3 combined malonic and methylmalonic aciduria  
ADK hypermethioninemia due to adenosine kinase deficiency AR
AHCY hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase AR
ALDH6A1 methylmalonate semialdehyde dehydrogenase deficiency AR
AMN megaloblastic anemia-1, norwegian type AR
CBS homocystinuria, b6-responsive and nonresponsive types AR
CBS thrombosis, hyperhomocysteinemic AR
CD320 methylmalonic aciduria, transient, due to transcobalamin receptor defect  
CUBN megaloblastic anemia-1, finnish type AR
DHFR megaloblastic anemia due to dihydrofolate reductase deficiency AR
FOLR1 neurodegeneration due to cerebral folate transport deficiency AR
FTCD glutamate formiminotransferase deficiency AR
GIF intrinsic factor deficiency AR
GNMT glycine n-methyltransferase deficiency AR
HCFC1 mental retardation, x-linked 3 (methylmalonic acidemia and homocysteinemia, cblx type ) XLR
HIBCH 3-hydroxyisobutryl-coa hydrolase deficiency AR
LMBRD1 methylmalonic aciduria and homocystinuria, cblf type AR
MAT1A hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency AD, AR
MAT1A methionine adenosyltransferase deficiency, autosomal recessive AD, AR
MCEE methylmalonyl-coa epimerase deficiency AR
MLYCD malonyl-coa decarboxylase deficiency AR
MMAA methylmalonic aciduria, vitamin b12-responsive AR
MMAB methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type AR
MMACHC methylmalonic aciduria and homocystinuria, cblc type AR
MMADHC homocystinuria, cbld type, variant 1 AR
MMADHC methylmalonic aciduria and homocystinuria, cbld type AR
MMADHC methylmalonic aciduria, cbld type, variant 2 AR
MMUT    
MTHFD1 {neural tube defects, folate-sensitive, susceptibility to} AR
MTHFD1 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia AR
MTHFR {neural tube defects, susceptibility to} AR
MTHFR {schizophrenia, susceptibility to} AD
MTHFR {thromboembolism, susceptibility to} AD
MTHFR {vascular disease, susceptibility to}  
MTHFR homocystinuria due to mthfr deficiency AR
MTR {neural tube defects, folate-sensitive, susceptibility to} AR
MTR homocystinuria-megaloblastic anemia, cblg complementation type AR
MTRR {neural tube defects, folate-sensitive, susceptibility to} AR
MTRR homocystinuria-megaloblastic anemia, cbl e type AR
PCCA propionicacidemia AR
PCCB propionicacidemia AR
PRDX1 methylmalonic aciduria and homocystinuria, cblc type, digenic AR
SLC46A1 folate malabsorption, hereditary AR
SUCLA2 mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) AR
SUCLG1 mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) AR
TCN1    
TCN2 transcobalamin ii deficiency AR
THAP11    
ZNF143    

Oxidative Phosphorylation Disorders NGS Panel
Title Phenotype Inheritance
AARS2 combined oxidative phosphorylation deficiency 8 AR
AARS2 leukoencephalopathy, progressive, with ovarian failure AR
ABCB7 anemia, sideroblastic, with ataxia XLR
ABCB8    
ABHD5 chanarin-dorfman syndrome AR
ACAD9 mitochondrial complex i deficiency, nuclear type 20 AR
ACADS acyl-coa dehydrogenase, short-chain, deficiency of AR
AFG3L2 spastic ataxia 5, autosomal recessive AR
AFG3L2 spinocerebellar ataxia 28 AD
AGK cataract 38, autosomal recessive AR
AGK sengers syndrome AR
AIFM1 combined oxidative phosphorylation deficiency 6 XLR
AIFM1 cowchock syndrome XLR
AIFM1 deafness, x-linked 5 XLR
AIFM1 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy XLR
AK2 reticular dysgenesis AR
AK3    
APOPT1 mitochondrial complex iv deficiency AR, Mi
APTX ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia AR
ARMS2 {macular degeneration, age-related, 8}  
ARX epileptic encephalopathy, early infantile, 1 XLR
ARX hydranencephaly with abnormal genitalia XL
ARX lissencephaly, x-linked 2 XL
ARX mental retardation, x-linked 29 and others XLR
ARX partington syndrome XLR
ARX proud syndrome XL
ATAD3B    
ATP5F1A ?combined oxidative phosphorylation deficiency 22 AR
ATP5F1A ?mitochondrial complex v (atp synthase) deficiency, nuclear type 4 AR
ATP5F1B    
ATP5F1E ?mitochondrial complex v (atp synthase) deficiency, nuclear type 3  
ATP7B wilson disease AR
ATPAF2 ?mitochondrial complex v (atp synthase) deficiency, nuclear type 1 AR
BCS1L bjornstad syndrome AR
BCS1L gracile syndrome AR
BCS1L leigh syndrome AR, Mi
BCS1L mitochondrial complex iii deficiency, nuclear type 1 AR
BOLA3 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia AR
C12orf65    
CA5A hyperammonemia due to carbonic anhydrase va deficiency AR
CARS2 combined oxidative phosphorylation deficiency 27 AR
CCT7    
CHCHD10 ?myopathy, isolated mitochondrial, autosomal dominant AD
CHCHD10 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 AD
CHCHD10 spinal muscular atrophy, jokela type AD
CISD2 wolfram syndrome 2 AR
CKMT1B    
CLPP perrault syndrome 3 AR
COA5 ?cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 AR
COQ2 {multiple system atrophy, susceptibility to} AD, AR
COQ2 coenzyme q10 deficiency, primary, 1 AR
COQ4 coenzyme q10 deficiency, primary, 7 AR
COQ6 coenzyme q10 deficiency, primary, 6 AR
COQ7 ?coenzyme q10 deficiency, primary, 8 AR
COQ8A coenzyme q10 deficiency, primary, 4 AR
COQ9 coenzyme q10 deficiency, primary, 5 AR
COX10 leigh syndrome due to mitochondrial cox4 deficiency AR, Mi
COX10 mitochondrial complex iv deficiency AR, Mi
COX14 ?mitochondrial complex iv deficiency AR, Mi
COX15 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 AR
COX15 leigh syndrome due to cytochrome c oxidase deficiency AR, Mi
COX20 mitochondrial complex iv deficiency AR, Mi
COX4I1    
COX4I2 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis AR
COX6A1 charcot-marie-tooth disease, recessive intermediate d AR
COX6B1 mitochondrial complex iv deficiency AR, Mi
COX7A1    
COX7B linear skin defects with multiple congenital anomalies 2 XLD
COX8A ?mitochondrial complex iv deficiency AR, Mi
CYC1 mitochondrial complex iii deficiency, nuclear type 6 AR
CYCS thrombocytopenia 4 AD
DARS    
DARS2 leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation AR
DGUOK mitochondrial dna depletion syndrome 3 (hepatocerebral type) AR
DGUOK portal hypertension, noncirrhotic AR
DGUOK progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 AR
DHTKD1 ?charcot-marie-tooth disease, axonal, type 2q AD
DHTKD1 2-aminoadipic 2-oxoadipic aciduria AR
DNA2 ?seckel syndrome 8 AR
DNA2 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 AD
DNAJC19 3-methylglutaconic aciduria, type v AR
DNM1L encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 AD, AR
DNM1L optic atrophy 5 AD
EARS2 combined oxidative phosphorylation deficiency 12 AR
ECSIT    
ETHE1 ethylmalonic encephalopathy AR
FARS2 combined oxidative phosphorylation deficiency 14 AR
FARS2 spastic paraplegia 77, autosomal recessive AR
FASTKD2 ?mitochondrial complex iv deficiency AR, Mi
FBXL4 mitochondrial dna depletion syndrome 13 (encephalomyopathic type) AR
FDPS porokeratosis 9, multiple types AD
FOXRED1 mitochondrial complex i deficiency, nuclear type 19 AR
FXN friedreich ataxia AR
FXN friedreich ataxia with retained reflexes AR
GARS    
GATD3A    
GFER myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay  
GFM1 combined oxidative phosphorylation deficiency 1 AR
GFM2 combined oxidative phosphorylation deficiency 39 AR
GTPBP3 combined oxidative phosphorylation deficiency 23 AR
HARS2 ?perrault syndrome 2 AR
HCCS linear skin defects with multiple congenital anomalies 1 XLD
HOGA1 hyperoxaluria, primary, type iii AR
HSPA9 anemia, sideroblastic, 4 AD
HSPA9 even-plus syndrome AR
HSPD1 leukodystrophy, hypomyelinating, 4 AR
HSPD1 spastic paraplegia 13, autosomal dominant AD
HSPE1    
IARS2 ?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia AR
IBA57 ?spastic paraplegia 74, autosomal recessive AR
IBA57 multiple mitochondrial dysfunctions syndrome 3 AR
IMMT    
ISCU myopathy with lactic acidosis, hereditary AR
KARS    
KIF1B ?charcot-marie-tooth disease, type 2a1 AD
KIF1B {neuroblastoma, susceptibility to, 1} AD, SMu
KIF1B pheochromocytoma AD
LARS2 ?hydrops, lactic acidosis, and sideroblastic anemia AR
LARS2 perrault syndrome 4 AR
LRPPRC leigh syndrome, french-canadian type AR
LYRM4 ?combined oxidative phosphorylation deficiency 19 AR
LYRM7 mitochondrial complex iii deficiency, nuclear type 8 AR
MARS    
MARS2 ?combined oxidative phosphorylation deficiency 25 AR
MARS2 spastic ataxia 3, autosomal recessive AR
MFN2 charcot-marie-tooth disease, axonal, type 2a2a AD
MFN2 charcot-marie-tooth disease, axonal, type 2a2b AR
MFN2 hereditary motor and sensory neuropathy via AD
MGME1 mitochondrial dna depletion syndrome 11 AR
MPC1 mitochondrial pyruvate carrier deficiency AR
MPV17 charcot-marie-tooth disease, axonal, type 2ee AR
MPV17 mitochondrial dna depletion syndrome 6 (hepatocerebral type) AR
MRPL15    
MRPL19    
MRPL3 combined oxidative phosphorylation deficiency 9 AR
MRPL43    
MRPL44 ?combined oxidative phosphorylation deficiency 16 AR
MRPL57    
MRPS12    
MRPS16 combined oxidative phosphorylation deficiency 2 AR
MRPS17    
MRPS18A    
MRPS22 combined oxidative phosphorylation deficiency 5 AR
MRPS22 ovarian dysgenesis 7 AR
MRRF    
MTCH2    
MTFMT combined oxidative phosphorylation deficiency 15 AR
MTFMT mitochondrial complex i deficiency, nuclear type 27 AR
MTO1 combined oxidative phosphorylation deficiency 10 AR
MTPAP ?spastic ataxia 4, autosomal recessive AR
NARS2 ?deafness, autosomal recessive 94 AR
NARS2 combined oxidative phosphorylation deficiency 24 AR
NDUFA1 mitochondrial complex i deficiency, nuclear type 12 XLR
NDUFA10 mitochondrial complex i deficiency, nuclear type 22 AR
NDUFA11 mitochondrial complex i deficiency, nuclear type 14 AR
NDUFA12 ?mitochondrial complex i deficiency, nuclear type 23 AR
NDUFA13 ?mitochondrial complex i deficiency, nuclear type 28 AR
NDUFA13 {thyroid carcinoma, hurthle cell}  
NDUFA2 ?mitochondrial complex i deficiency, nuclear type 13 AR
NDUFA4    
NDUFA6 mitochondrial complex i deficiency, nuclear type 33 AR
NDUFA7    
NDUFA8    
NDUFA9 mitochondrial complex i deficiency, nuclear type 26 AR
NDUFAF1 mitochondrial complex i deficiency, nuclear type 11 AR
NDUFAF2 mitochondrial complex i deficiency, nuclear type 10 AR
NDUFAF3 mitochondrial complex i deficiency, nuclear type 18 AR
NDUFAF4 mitochondrial complex i deficiency, nuclear type 15 AR
NDUFAF5 mitochondrial complex i deficiency, nuclear type 16 AR
NDUFAF6 mitochondrial complex i deficiency, nuclear type 17 AR
NDUFB1    
NDUFB11 ?mitochondrial complex i deficiency, nuclear type 30 XL
NDUFB11 linear skin defects with multiple congenital anomalies 3 XLD
NDUFB3 mitochondrial complex i deficiency, nuclear type 25 AR
NDUFB6    
NDUFB8 mitochondrial complex i deficiency, nuclear type 32 AR
NDUFB9 ?mitochondrial complex i deficiency, nuclear type 24 AR
NDUFC2    
NDUFS1 mitochondrial complex i deficiency, nuclear type 5 AR
NDUFS2 mitochondrial complex i deficiency, nuclear type 6 AR
NDUFS3 mitochondrial complex i deficiency, nuclear type 8 AR
NDUFS4 mitochondrial complex i deficiency, nuclear type 1 AR
NDUFS5    
NDUFS6 mitochondrial complex i deficiency, nuclear type 9 AR
NDUFS7 mitochondrial complex i deficiency, nuclear type 3 AR
NDUFS8 mitochondrial complex i deficiency, nuclear type 2 AR
NDUFV1 mitochondrial complex i deficiency, nuclear type 4 AR
NDUFV2 mitochondrial complex i deficiency, nuclear type 7 AR
NDUFV3    
NFU1 multiple mitochondrial dysfunctions syndrome 1 AR
NLRX1    
NNT glucocorticoid deficiency 4, with or without mineralocorticoid deficiency AR
NUBPL mitochondrial complex i deficiency, nuclear type 21 AR
OPA1 ?mitochondrial dna depletion syndrome 14 (encephalocardiomyopathic type)  
OPA1 {glaucoma, normal tension, susceptibility to}  
OPA1 behr syndrome AR
OPA1 optic atrophy 1 AD
OPA1 optic atrophy plus syndrome AD
OPA3 3-methylglutaconic aciduria, type iii AR
OPA3 optic atrophy 3 with cataract AD
PANK2 harp syndrome AR
PANK2 neurodegeneration with brain iron accumulation 1 AR
PDSS1 coenzyme q10 deficiency, primary, 2 AR
PDSS2 coenzyme q10 deficiency, primary, 3 AR
PNPT1 combined oxidative phosphorylation deficiency 13 AR
PNPT1 deafness, autosomal recessive 70 AR
POLG mitochondrial dna depletion syndrome 4a (alpers type) AR
POLG mitochondrial dna depletion syndrome 4b (mngie type) AR
POLG mitochondrial recessive ataxia syndrome (includes sando and scae) AR
POLG progressive external ophthalmoplegia, autosomal dominant 1 AD
POLG progressive external ophthalmoplegia, autosomal recessive 1 AR
POLG2 mitochondrial dna depletion syndrome 16 (hepatic type) AR
POLG2 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 AD
PUS1 myopathy, lactic acidosis, and sideroblastic anemia 1 AR
RARS    
RARS2 pontocerebellar hypoplasia, type 6 AR
RMND1 combined oxidative phosphorylation deficiency 11 AR
RMRP anauxetic dysplasia 1 AR
RMRP cartilage-hair hypoplasia AR
RMRP metaphyseal dysplasia without hypotrichosis AR
RPL35A diamond-blackfan anemia 5 AD
RPS14 macrocytic anemia, refractory, due to 5q deletion, somatic  
RRM2B mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy) AR
RRM2B mitochondrial dna depletion syndrome 8b (mngie type) AR
RRM2B progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 AD
RYR1 {malignant hyperthermia susceptibility 1} AD
RYR1 central core disease AD, AR
RYR1 king-denborough syndrome AD
RYR1 minicore myopathy with external ophthalmoplegia AR
RYR1 neuromuscular disease, congenital, with uniform type 1 fiber AD, AR
SARS2 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis AR
SCO1 mitochondrial complex iv deficiency AR, Mi
SCO2 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 AR
SCO2 myopia 6 AD
SDHA cardiomyopathy, dilated, 1gg  
SDHA leigh syndrome AR, Mi
SDHA mitochondrial respiratory chain complex ii deficiency AR
SDHA paragangliomas 5 AD
SDHAF1 mitochondrial complex ii deficiency AR
SDHAF2 paragangliomas 2 AD
SDHB gastrointestinal stromal tumor AD, IC
SDHB paraganglioma and gastric stromal sarcoma  
SDHB paragangliomas 4 AD
SDHB pheochromocytoma AD
SDHC gastrointestinal stromal tumor AD, IC
SDHC paraganglioma and gastric stromal sarcoma  
SDHC paragangliomas 3 AD
SDHD mitochondrial complex ii deficiency AR
SDHD paraganglioma and gastric stromal sarcoma  
SDHD paragangliomas 1, with or without deafness AD
SDHD pheochromocytoma AD
SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome AR
SHMT2    
SIRT3    
SLC16A1 erythrocyte lactate transporter defect AD
SLC16A1 hyperinsulinemic hypoglycemia, familial, 7 AD
SLC16A1 monocarboxylate transporter 1 deficiency AD, AR
SLC19A3 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) AR
SLC25A1 ?myasthenic syndrome, congenital, 23, presynaptic AR
SLC25A1 combined d-2- and l-2-hydroxyglutaric aciduria AR
SLC25A12 epileptic encephalopathy, early infantile, 39 AR
SLC25A16    
SLC25A19 microcephaly, amish type AR
SLC25A19 thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) AR
SLC25A21    
SLC25A22 epileptic encephalopathy, early infantile, 3 AR
SLC25A3 mitochondrial phosphate carrier deficiency  
SLC25A32 ?exercise intolerance, riboflavin-responsive AR
SLC25A35    
SLC25A38 anemia, sideroblastic, 2, pyridoxine-refractory AR
SLC25A4 mitochondrial dna depletion syndrome 12a (cardiomyopathic type) ad AD
SLC25A4 mitochondrial dna depletion syndrome 12b (cardiomyopathic type) ar AR
SLC25A4 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 AD
SLC25A42 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression AR
SLC25A5    
SLC25A6    
SLC5A8    
SOD2 {microvascular complications of diabetes 6}  
SPG7 spastic paraplegia 7, autosomal recessive AD, AR
SUCLG1 mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) AR
SURF1 charcot-marie-tooth disease, type 4k AR
SURF1 leigh syndrome, due to cox iv deficiency AR, Mi
TACO1 mitochondrial complex iv deficiency AR, Mi
TARS2 ?combined oxidative phosphorylation deficiency 21 AR
TAZ barth syndrome XLR
TFAM ?mitochondrial dna depletion syndrome 15 (hepatocerebral type) AR
TFB1M    
TIMM13    
TIMM44    
TIMM50 3-methylglutaconic aciduria, type ix AR
TIMM8A mohr-tranebjaerg syndrome XLR
TIMM9    
TK2 ?progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 AR
TK2 mitochondrial dna depletion syndrome 2 (myopathic type) AR
TKT short stature, developmental delay, and congenital heart defects AR
TMEM126A optic atrophy 7 AR
TMEM70 mitochondrial complex v (atp synthase) deficiency, nuclear type 2 AR
TOP1MT    
TRMU {deafness, mitochondrial, modifier of} Mi
TRMU liver failure, transient infantile AR
TRNT1 retinitis pigmentosa and erythrocytic microcytosis AR
TRNT1 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay AR
TSFM combined oxidative phosphorylation deficiency 3 AR
TSPO    
TTC19 mitochondrial complex iii deficiency, nuclear type 2 AR
TUFM combined oxidative phosphorylation deficiency 4 AR
TWNK mitochondrial dna depletion syndrome 7 (hepatocerebral type) AR
TWNK perrault syndrome 5 AR
TWNK progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 AD
TYMP mitochondrial dna depletion syndrome 1 (mngie type) AR
UCP1    
UCP2 {obesity, susceptibility to, bmiq4}  
UCP3 {obesity, severe, and type ii diabetes} AD, AR, Mu
UNG immunodeficiency with hyper igm, type 5 AR
UQCC2 mitochondrial complex iii deficiency, nuclear type 7 AR
UQCRB mitochondrial complex iii deficiency, nuclear type 3 AR
UQCRC2 mitochondrial complex iii deficiency, nuclear type 5 AR
UQCRQ mitochondrial complex iii deficiency, nuclear type 4 AR
VARS2 combined oxidative phosphorylation deficiency 20 AR
WARS2 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures AR
YARS2 myopathy, lactic acidosis, and sideroblastic anemia 2 AR

 

Pyruvate Metabolism Disorders NGS Panel

Title Phenotype Inheritance
BTD biotinidase deficiency AR
DLAT pyruvate dehydrogenase e2 deficiency AR
DLD dihydrolipoamide dehydrogenase deficiency AR
HLCS holocarboxylase synthetase deficiency AR
LDHB [lactate dehydrogenase-b deficiency]  
LIAS hyperglycinemia, lactic acidosis, and seizures AR
LIPT1 lipoyltransferase 1 deficiency AR
PC pyruvate carboxylase deficiency AR
PDHA1 pyruvate dehydrogenase e1-alpha deficiency XLD
PDHB pyruvate dehydrogenase e1-beta deficiency  
PDHX lacticacidemia due to pdx1 deficiency AR
PDK3 ?charcot-marie-tooth disease, x-linked dominant, 6 XLD
PDP1 pyruvate dehydrogenase phosphatase deficiency AR
SLC19A3 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) AR

Diabetes-Obesity NGS Panel
Title Phenotype Inheritance
ABCC8 diabetes mellitus, noninsulin-dependent AD
ABCC8 diabetes mellitus, permanent neonatal AD, AR
ABCC8 diabetes mellitus, transient neonatal 2  
ABCC8 hyperinsulinemic hypoglycemia, familial, 1 AD, AR
ABCC8 hypoglycemia of infancy, leucine-sensitive AD
ADRB2 {asthma, nocturnal, susceptibility to} AD
ADRB2 {obesity, susceptibility to} AD, AR, Mu
ADRB2 beta-2-adrenoreceptor agonist, reduced response to  
ADRB3 {obesity, susceptibility to} AD, AR, Mu
AGRP {leanness, inherited} AD, AR, Mu
AGRP {obesity, late-onset} AD, AR, Mu
ALMS1 alstrom syndrome AR
ARL6 ?retinitis pigmentosa 55  
ARL6 {bardet-biedl syndrome 1, modifier of} AR, DR
ARL6 bardet-biedl syndrome 3 AR
BBS1 bardet-biedl syndrome 1 AR, DR
BBS10 bardet-biedl syndrome 10 AR
BBS12 bardet-biedl syndrome 12 AR
BBS2 bardet-biedl syndrome 2 AR
BBS2 retinitis pigmentosa 74 AR
BBS4 bardet-biedl syndrome 4 AR
BBS5 bardet-biedl syndrome 5 AR
BBS7 bardet-biedl syndrome 7 AR
BBS9    
BDNF    
CARTPT {?obesity, susceptibility to} AD, AR, Mu
CEL maturity-onset diabetes of the young, type viii AD
CEP290 ?bardet-biedl syndrome 14 AR
CEP290 joubert syndrome 5 AR
CEP290 leber congenital amaurosis 10  
CEP290 meckel syndrome 4 AR
CEP290 senior-loken syndrome 6 AR
EIF2AK3 wolcott-rallison syndrome AR
ENPP1 {diabetes mellitus, non-insulin-dependent, susceptibility to} AD
ENPP1 {obesity, susceptibility to} AD, AR, Mu
ENPP1 arterial calcification, generalized, of infancy, 1 AR
ENPP1 cole disease AD
ENPP1 hypophosphatemic rickets, autosomal recessive, 2 AR
FOXP3 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked XLR
GCK diabetes mellitus, noninsulin-dependent, late onset AD
GCK diabetes mellitus, permanent neonatal AD, AR
GCK hyperinsulinemic hypoglycemia, familial, 3 AD
GCK mody, type ii AD
GHRL {obesity, susceptibility to} AD, AR, Mu
GLIS3 diabetes mellitus, neonatal, with congenital hypothyroidism AR
GNAS acth-independent macronodular adrenal hyperplasia SMu
GNAS mccune-albright syndrome, somatic, mosaic  
GNAS osseous heteroplasia, progressive AD
GNAS pituitary adenoma 3, multiple types, somatic  
GNAS pseudohypoparathyroidism ia AD
GNAS pseudohypoparathyroidism ib AD
GNAS pseudohypoparathyroidism ic AD
GNAS pseudopseudohypoparathyroidism AD
HNF1A {diabetes mellitus, insulin-dependent} AR
HNF1A {diabetes mellitus, noninsulin-dependent, 2} AD
HNF1A diabetes mellitus, insulin-dependent, 20  
HNF1A hepatic adenoma, somatic  
HNF1A mody, type iii AD
HNF1A renal cell carcinoma  
HNF1B {renal cell carcinoma}  
HNF1B diabetes mellitus, noninsulin-dependent AD
HNF1B renal cysts and diabetes syndrome AD
HNF4A {diabetes mellitus, noninsulin-dependent} AD
HNF4A fanconi renotubular syndrome 4, with maturity-onset diabetes of the young AD
HNF4A mody, type i AD
INS diabetes mellitus, insulin-dependent, 2 AD
INS diabetes mellitus, permanent neonatal AD, AR
INS hyperproinsulinemia AD
INS maturity-onset diabetes of the young, type 10 AD
KCNJ11 {diabetes mellitus, type 2, susceptibility to} AD
KCNJ11 diabetes mellitus, transient neonatal, 3 AD
KCNJ11 diabetes, permanent neonatal, with or without neurologic features AD, AR
KCNJ11 hyperinsulinemic hypoglycemia, familial, 2 AR
KCNJ11 maturity-onset diabetes of the young, type 13 AD
LEP obesity, morbid, due to leptin deficiency AR
LEPR obesity, morbid, due to leptin receptor deficiency AR
MAGEL2 schaaf-yang syndrome AD
MC4R {obesity, resistence to (bmiq20)}  
MC4R obesity (bmiq20) AD, AR
MKKS bardet-biedl syndrome 6 AR
MKKS mckusick-kaufman syndrome AR
MKS1 bardet-biedl syndrome 13 AR
MKS1 joubert syndrome 28 AR
MKS1 meckel syndrome 1 AR
NEUROD1 {diabetes mellitus, noninsulin-dependent} AD
NEUROD1 maturity-onset diabetes of the young 6  
NEUROG3 diarrhea 4, malabsorptive, congenital AR
NTRK2 epileptic encephalopathy, early infantile, 58 AD
NTRK2 obesity, hyperphagia, and developmental delay AD
PCSK1 {obesity, susceptibility to, bmiq12}  
PCSK1 obesity with impaired prohormone processing AR
PDX1 {diabetes mellitus, type ii, susceptibility to} AD
PDX1 mody, type iv  
PDX1 pancreatic agenesis 1 AR
POMC {obesity, early-onset, susceptibility to} AD, AR, Mu
POMC obesity, adrenal insufficiency, and red hair due to pomc deficiency AR
PPARG [obesity, resistance to]  
PPARG {diabetes, type 2} AD
PPARG carotid intimal medial thickness 1  
PPARG insulin resistance, severe, digenic AD
PPARG lipodystrophy, familial partial, type 3 AD
PPARG obesity, severe AD, AR, Mu
PPARGC1B    
PTF1A pancreatic agenesis 2 AR
PTF1A pancreatic and cerebellar agenesis AR
PYY    
RFX6 mitchell-riley syndrome AR
SDC3 {obesity, association with} AD, AR, Mu
SDCCAG8 bardet-biedl syndrome 16 AR
SDCCAG8 senior-loken syndrome 7  
SIM1    
TRIM32 ?bardet-biedl syndrome 11 AR
TRIM32 muscular dystrophy, limb-girdle, autosomal recessive 8 AR
TTC8 ?retinitis pigmentosa 51 AR
TTC8 bardet-biedl syndrome 8 AR
UCP1    
UCP3 {obesity, severe, and type ii diabetes} AD, AR, Mu
WDPCP ?bardet-biedl syndrome 15 AR
WDPCP ?congenital heart defects, hamartomas of tongue, and polysyndactyly AR
WFS1 ?cataract 41 AD
WFS1 {diabetes mellitus, noninsulin-dependent, association with} AD
WFS1 deafness, autosomal dominant 6/14/38 AD
WFS1 wolfram syndrome 1 AR
WFS1 wolfram-like syndrome, autosomal dominant AD

Newborn Screening For EYES
Title Phenotype Inheritance
RPE65 leber congenital amaurosis 2 AR
RPE65 retinitis pigmentosa 20 AR
RPE65 retinitis pigmentosa 87 with choroidal involvement AD
GUCY2D ?choroidal dystrophy, central areolar 1 AD
GUCY2D cone-rod dystrophy 6 AD, AR
GUCY2D leber congenital amaurosis 1 AR
GUCY2D night blindness, congenital stationary, type 1i AR
CRB1 leber congenital amaurosis 8 AR
CRB1 pigmented paravenous chorioretinal atrophy AD
CRB1 retinitis pigmentosa-12 AR
LRAT leber congenital amaurosis 14 AR
LRAT retinal dystrophy, early-onset severe AR
LRAT retinitis pigmentosa, juvenile AR
CEP290 ?bardet-biedl syndrome 14 AR
CEP290 joubert syndrome 5 AR
CEP290 leber congenital amaurosis 10  
CEP290 meckel syndrome 4 AR
CEP290 senior-loken syndrome 6 AR
RS1 retinoschisis XLR
GNAT2 achromatopsia 4  
CNGA3 achromatopsia 2 AR
PDE6C cone dystrophy 4 AR
CNGB3 achromatopsia 3 AR
CNGB3 macular degeneration, juvenile AR
RPGR cone-rod dystrophy, x-linked, 1 XL
RPGR macular degeneration, x-linked atrophic XLR
RPGR retinitis pigmentosa 3  
RPGR retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness  
ABCA4 {macular degeneration, age-related, 2} AD
ABCA4 cone-rod dystrophy 3  
ABCA4 fundus flavimaculatus AR
ABCA4 retinal dystrophy, early-onset severe AR
ABCA4 retinitis pigmentosa 19 AR
ABCA4 stargardt disease 1 AR
MYO7A deafness, autosomal dominant 11 AD
MYO7A deafness, autosomal recessive 2 AR
MYO7A usher syndrome, type 1b AR
CHM choroideremia XLD
ND4 (=MTND4，注意。粒線體基因，不在WES的定序範圍內) LEBER OPTIC ATROPHY (mtDNA 11778 G>A #N/A
CNGA1 retinitis pigmentosa 49  
RHO night blindness, congenital stationary, autosomal dominant 1  
RHO retinitis pigmentosa 4, autosomal dominant or recessive AD, AR
RHO retinitis punctata albescens AD, AR
RPGR cone-rod dystrophy, x-linked, 1 XL
RPGR macular degeneration, x-linked atrophic XLR
RPGR retinitis pigmentosa 3  
RPGR retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness  
CNGB1 retinitis pigmentosa 45 AR
MERTK retinitis pigmentosa 38 AR
PDE6b Night blindness, congenital stationary, autosomal dominant 2 AD
PDE6b Retinitis pigmentosa-40 AR
RP1L1 occult macular dystrophy AD
OPA3 3-methylglutaconic aciduria, type iii AR
OPA3 optic atrophy 3 with cataract AD
TMEM126A (OPA7) Optic atrophy 7 AR
ROA1 Optic atrophy 6 AR
OPA1 ?mitochondrial dna depletion syndrome 14 (encephalocardiomyopathic type)  
OPA1 {glaucoma, normal tension, susceptibility to}  
OPA1 behr syndrome AR
OPA1 optic atrophy 1 AD
OPA1 optic atrophy plus syndrome AD
OPA4 optic atrophy 1 AD
OPA4 optic atrophy 10 with or without ataxia, mental retardation, and seizures AR
OPA4 optic atrophy 6 AR
OPA4 ?optic atrophy 11 AR
OPA4 optic atrophy 7 AR
OPA4 optic atrophy 5 AD
OPA4 optic atrophy 8 AD
OPA4 optic atrophy 4  
OPA4 optic atrophy 3 with cataract AD
OPA4 ?optic atrophy 9 AR
OPA4 optic atrophy 2, x-linked XL
WFS1 ?cataract 41 AD
WFS1 {diabetes mellitus, noninsulin-dependent, association with} AD
WFS1 deafness, autosomal dominant 6/14/38 AD
WFS1 wolfram syndrome 1 AR
WFS1 wolfram-like syndrome, autosomal dominant AD
CISD2 wolfram syndrome 2 AR
mtDNA 11778 G>A (=MTND4) mtDNA 11778 G>A Leber hereditary optic neuropathy (LHON)  
 

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