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

 

Intrahepatic Cholestasis Panel
Title Phenotype Inheritance
ABCB4 cholestasis, intrahepatic, of pregnancy, 3 AD, AR
ABCB4 cholestasis, progressive familial intrahepatic 3 AR
ABCB4 gallbladder disease 1 AD, AR
UGT1A1 [bilirubin, serum level of, qtl1]  
UGT1A1 [gilbert syndrome] AR
UGT1A1 crigler-najjar syndrome, type i AR
UGT1A1 crigler-najjar syndrome, type ii AR
UGT1A1 hyperbilirubinemia, familial transient neonatal AR
ATP8B1 cholestasis, benign recurrent intrahepatic AR
ATP8B1 cholestasis, intrahepatic, of pregnancy, 1 AD
ATP8B1 cholestasis, progressive familial intrahepatic 1 AR
ABCB11 cholestasis, benign recurrent intrahepatic, 2 AR
ABCB11 cholestasis, progressive familial intrahepatic 2 AR

 

Meckel Syndrome Panel

Title Phenotype Inheritance
NPHP3 meckel syndrome 7 AR
NPHP3 nephronophthisis 3 AR
NPHP3 renal-hepatic-pancreatic dysplasia 1 AR
TMEM67 ?rhyns syndrome AR
TMEM67 {bardet-biedl syndrome 14, modifier of} AR
TMEM67 coach syndrome AR
TMEM67 joubert syndrome 6 AR
TMEM67 meckel syndrome 3 AR
TMEM67 nephronophthisis 11 AR
MKS1 bardet-biedl syndrome 13 AR
MKS1 joubert syndrome 28 AR
MKS1 meckel syndrome 1 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
RPGRIP1L coach syndrome AR
RPGRIP1L joubert syndrome 7 AR
RPGRIP1L meckel syndrome 5 AR
B9D2 ?meckel syndrome 10 AR
B9D2 joubert syndrome 34 AR
CC2D2A coach syndrome AR
CC2D2A joubert syndrome 9 AR
CC2D2A meckel syndrome 6 AR
TMEM216 joubert syndrome 2 AR
TMEM216 meckel syndrome 2 AR
TCTN2 ?meckel syndrome 8 AR
TCTN2 joubert syndrome 24 AR
B9D1 ?meckel syndrome 9 AR
B9D1 joubert syndrome 27 AR
TMEM231 joubert syndrome 20 AR
TMEM231 meckel syndrome 11 AR

 

Neonatal Mitochondrial Hepatopathies Panel

Title Phenotype Inheritance
MPV17 charcot-marie-tooth disease, axonal, type 2ee AR
MPV17 mitochondrial dna depletion syndrome 6 (hepatocerebral type) 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
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
BCS1L bjornstad syndrome AR
BCS1L gracile syndrome AR
BCS1L leigh syndrome AR, Mi
BCS1L mitochondrial complex iii deficiency, nuclear type 1 AR
TFR2 hemochromatosis, type 3 AR
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
HAMP hemochromatosis, type 2b AR
GFM1 combined oxidative phosphorylation deficiency 1 AR
NBAS infantile liver failure syndrome 2 AR
NBAS short stature, optic nerve atrophy, and pelger-huet anomaly AR
TRMU {deafness, mitochondrial, modifier of} Mi
TRMU liver failure, transient infantile AR
FAH tyrosinemia, type i AR

 

Pancreatitis Panel
Title Phenotype Inheritance
BRCA1 {breast-ovarian cancer, familial, 1} AD, Mu
BRCA1 {pancreatic cancer, susceptibility to, 4}  
BRCA1 fanconi anemia, complementation group s AR
MLH1 colorectal cancer, hereditary nonpolyposis, type 2  
MLH1 mismatch repair cancer syndrome AR
MLH1 muir-torre syndrome AD
SPINK1 {fibrocalculous pancreatic diabetes, susceptibility to} AD, AR
SPINK1 pancreatitis, hereditary AD
SPINK1 tropical calcific pancreatitis AD, AR
ABCB4 cholestasis, intrahepatic, of pregnancy, 3 AD, AR
ABCB4 cholestasis, progressive familial intrahepatic 3 AR
ABCB4 gallbladder disease 1 AD, AR
EPCAM colorectal cancer, hereditary nonpolyposis, type 8  
EPCAM diarrhea 5, with tufting enteropathy, congenital AR
TP53 {adrenocortical carcinoma, pediatric} AD
TP53 {basal cell carcinoma 7} AD
TP53 {choroid plexus papilloma} AD
TP53 {colorectal cancer} AD, SMu
TP53 {glioma susceptibility 1} AD, SMu
TP53 {osteosarcoma} SMu
TP53 bone marrow failure syndrome 5 AD
TP53 breast cancer, somatic  
TP53 hepatocellular carcinoma, somatic  
TP53 li-fraumeni syndrome AD
TP53 nasopharyngeal carcinoma, somatic  
TP53 pancreatic cancer, somatic  
PRSS1 pancreatitis, hereditary AD
PRSS1 trypsinogen deficiency AR
BRCA2 {breast cancer, male, susceptibility to} AD, SMu
BRCA2 {breast-ovarian cancer, familial, 2} AD
BRCA2 {glioblastoma 3} AR
BRCA2 {medulloblastoma} AD, AR, SMu
BRCA2 {pancreatic cancer 2}  
BRCA2 {prostate cancer} AD, SMu
BRCA2 fanconi anemia, complementation group d1 AR
BRCA2 wilms tumor AD, SMu
CDKN2A {melanoma and neural system tumor syndrome} AD
CDKN2A {melanoma-pancreatic cancer syndrome} AD
CDKN2A {melanoma, cutaneous malignant, 2} AD
PMS2 colorectal cancer, hereditary nonpolyposis, type 4  
PMS2 mismatch repair cancer syndrome AR
MSH6 {endometrial cancer, familial} AD, SMu
MSH6 colorectal cancer, hereditary nonpolyposis, type 5 AD
MSH6 mismatch repair cancer syndrome AR
SMAD4 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome AD
SMAD4 myhre syndrome AD
SMAD4 pancreatic cancer, somatic  
SMAD4 polyposis, juvenile intestinal 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
BMPR1A juvenile polyposis syndrome, infantile form AD
BMPR1A polyposis syndrome, hereditary mixed, 2  
BMPR1A polyposis, juvenile intestinal AD
CTRC {pancreatitis, chronic, susceptibility to} AD
STK11 melanoma, malignant, somatic  
STK11 pancreatic cancer, somatic  
STK11 peutz-jeghers syndrome AD
STK11 testicular tumor, somatic  
CFTR {bronchiectasis with or without elevated sweat chloride 1, modifier of} AD
CFTR {hypertrypsinemia, neonatal}  
CFTR {pancreatitis, hereditary} AD
CFTR congenital bilateral absence of vas deferens AR
CFTR cystic fibrosis AR
CFTR sweat chloride elevation without cf  
UBR1 johanson-blizzard syndrome AR
APOA5 {hypertriglyceridemia, susceptibility to} AD
APOA5 hyperchylomicronemia, late-onset AD
ATM {breast cancer, susceptibility to} AD, SMu
ATM ataxia-telangiectasia AR
ATM lymphoma, b-cell non-hodgkin, somatic  
ATM lymphoma, mantle cell, somatic  
ATM t-cell prolymphocytic leukemia, somatic  
APOC2 hyperlipoproteinemia, type ib AR
VHL erythrocytosis, familial, 2 AR
VHL hemangioblastoma, cerebellar, somatic  
VHL pheochromocytoma AD
VHL renal cell carcinoma, somatic  
VHL von hippel-lindau syndrome AD
MSH2 colorectal cancer, hereditary nonpolyposis, type 1 AD
MSH2 mismatch repair cancer syndrome AR
MSH2 muir-torre syndrome AD
LPL [high density lipoprotein cholesterol level qtl 11] AR
LPL combined hyperlipidemia, familial AD
LPL lipoprotein lipase deficiency AR
PALB2 {breast cancer, susceptibility to} AD, SMu
PALB2 {pancreatic cancer, susceptibility to, 3}  
PALB2 fanconi anemia, complementation group n  
APC adenoma, periampullary, somatic  
APC adenomatous polyposis coli AD
APC brain tumor-polyposis syndrome 2 AD
APC colorectal cancer, somatic  
APC desmoid disease, hereditary AD
APC gardner syndrome AD
APC gastric cancer, somatic  
APC hepatoblastoma, somatic  
GPIHBP1 hyperlipoproteinemia, type 1d AR
MEN1 adrenal adenoma, somatic  
MEN1 angiofibroma, somatic  
MEN1 carcinoid tumor of lung  
MEN1 lipoma, somatic  
MEN1 multiple endocrine neoplasia 1 AD
MEN1 parathyroid adenoma, somatic  
CPA1 nonalcoholic chronic pancreatitis AD

 

Hemochromatosis
Title Phenotype Inheritance
FTH1 ?hemochromatosis, type 5 AD
SLC40A1 hemochromatosis, type 4 AD
TFR2 hemochromatosis, type 3 AR
HAMP hemochromatosis, type 2b 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
HFE2 Hemochromatosis, type 2A AR

 

Congenital Diarrhea Panel

Title Phenotype Inheritance
IL10RB {hepatitis b virus, susceptibility to}  
IL10RB inflammatory bowel disease 25, early onset, autosomal recessive AR
SLC26A3 diarrhea 1, secretory chloride, congenital AR
IL10 {graft-versus-host disease, protection against}  
IL10 {hiv-1, susceptibility to}  
IL10 {rheumatoid arthritis, progression of}  
IL10RA inflammatory bowel disease 28, early onset, autosomal recessive AR
SLC5A1 glucose/galactose malabsorption AR
SLC9A3 diarrhea 8, secretory sodium, congenital AR
EPCAM colorectal cancer, hereditary nonpolyposis, type 8  
EPCAM diarrhea 5, with tufting enteropathy, congenital AR
MVK hyper-igd syndrome AR
MVK mevalonic aciduria AR
MVK porokeratosis 3, multiple types AD
XIAP lymphoproliferative syndrome, x-linked, 2 XLR
FOXP3 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked XLR
SKIV2L trichohepatoenteric syndrome 2 AR
SLC10A2 bile acid malabsorption, primary AR
GUCY2C diarrhea 6 AD
GUCY2C meconium ileus AR
LCT lactase deficiency, congenital AR
ADAM17 ?inflammatory skin and bowel disease, neonatal, 1 AR
NEUROG3 diarrhea 4, malabsorptive, congenital AR
DGAT1 ?diarrhea 7, protein-losing enteropathy type AR
SPINT2 diarrhea 3, secretory sodium, congenital, syndromic AR
IL21 ?immunodeficiency, common variable, 11 AR
CYP27A1 cerebrotendinous xanthomatosis AR
SAR1B chylomicron retention disease AR
NCF2 chronic granulomatous disease due to deficiency of ncf-2 AR
TTC7A gastrointestinal defects and immunodeficiency syndrome AR
SI sucrase-isomaltase deficiency, congenital AR
LIPA cholesteryl ester storage disease AR
LIPA wolman disease AR
TTC37 trichohepatoenteric syndrome 1 AR
ALPI Primary immunodeficiency AR
ALPI Viral susceptibility AR
MYO5B Microvillus inclusion disease AR
STX3 Intestinal failure AR

 

GI special
Title Phenotype Inheritance
SERPINA1 {pulmonary disease, chronic obstructive, susceptibility to}  
SERPINA1 emphysema due to aat deficiency AR
SERPINA1 emphysema-cirrhosis, due to aat deficiency AR
SERPINA1 hemorrhagic diathesis due to antithrombin pittsburgh AR
RET {hirschsprung disease, protection against} AD
RET {hirschsprung disease, susceptibility to, 1} AD
RET central hypoventilation syndrome, congenital AD
RET medullary thyroid carcinoma AD
RET multiple endocrine neoplasia iia AD
RET multiple endocrine neoplasia iib AD
RET pheochromocytoma AD
SPINK1 {fibrocalculous pancreatic diabetes, susceptibility to} AD, AR
SPINK1 pancreatitis, hereditary AD
SPINK1 tropical calcific pancreatitis AD, AR
POLE {colorectal cancer, susceptibility to, 12} AD
POLE fils syndrome AR
POLE image-i syndrome AR
POLD1 {colorectal cancer, susceptibility to, 10} AD
POLD1 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome AD
UGT1A1 [bilirubin, serum level of, qtl1]  
UGT1A1 [gilbert syndrome] AR
UGT1A1 crigler-najjar syndrome, type i AR
UGT1A1 crigler-najjar syndrome, type ii AR
UGT1A1 hyperbilirubinemia, familial transient neonatal AR
PRSS1 pancreatitis, hereditary AD
PRSS1 trypsinogen deficiency AR
NOTCH2 alagille syndrome 2 AD
NOTCH2 hajdu-cheney syndrome AD
MSH3 endometrial carcinoma, somatic  
MSH3 familial adenomatous polyposis 4 AR
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
CTRC {pancreatitis, chronic, susceptibility to} AD
ABCC2 dubin-johnson syndrome AR
JAG1 ?deafness, congenital heart defects, and posterior embryotoxon  
JAG1 alagille syndrome 1 AD
JAG1 tetralogy of fallot AD
STK11 melanoma, malignant, somatic  
STK11 pancreatic cancer, somatic  
STK11 peutz-jeghers syndrome AD
STK11 testicular tumor, somatic  
NTHL1 familial adenomatous polyposis 3 AR
CFTR {bronchiectasis with or without elevated sweat chloride 1, modifier of} AD
CFTR {hypertrypsinemia, neonatal}  
CFTR {pancreatitis, hereditary} AD
CFTR congenital bilateral absence of vas deferens AR
CFTR cystic fibrosis AR
CFTR sweat chloride elevation without cf  
BAAT hypercholanemia, familial AR
CLDN1 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis AR
NR1H4 cholestasis, progressive familial intrahepatic, 5 AR
SLC25A13 citrullinemia, adult-onset type ii AR
SLC25A13 citrullinemia, type ii, neonatal-onset AR
AKR1D1 bile acid synthesis defect, congenital, 2 AR
SLCO1B1 hyperbilirubinemia, rotor type, digenic DR
MUTYH adenomas, multiple colorectal AR
MUTYH gastric cancer, somatic  
SLCO1B3 hyperbilirubinemia, rotor type, digenic DR
ATP7B wilson disease AR
TJP2 cholestasis, progressive familial intrahepatic 4 AR
TJP2 hypercholanemia, familial AR
HSD3B7 bile acid synthesis defect, congenital, 1 AR
VPS33B arthrogryposis, renal dysfunction, and cholestasis 1 AR
APC adenoma, periampullary, somatic  
APC adenomatous polyposis coli AD
APC brain tumor-polyposis syndrome 2 AD
APC colorectal cancer, somatic  
APC desmoid disease, hereditary AD
APC gardner syndrome AD
APC gastric cancer, somatic  
APC hepatoblastoma, somatic  
VIPAS39 arthrogryposis, renal dysfunction, and cholestasis 2 AR
 

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