| 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 |
| 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 |
| 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 |
| 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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