Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABCD3 gene ABCD3 Expert Review Red;Literature Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Bile acid synthesis defect, congenital, 5 616278" 25168382 False 1 0;0;100 1.29 False ENSG00000117528 ENSG00000117528 HGNC:67 ABCG5 gene ABCG5 Emory Genetics Laboratory;Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Sitosterolemia 210250 16614371;29304564;16741293 False 1 0;100;0 1.29 False ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Emory Genetics Laboratory;Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Sitosterolemia 210250;intrahepatic cholestasis of pregnancy 16614371;25798860 False 1 0;100;0 1.29 False ENSG00000143921 ENSG00000143921 HGNC:13887 ARG1 gene ARG1 Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Argininemia, OMIM:207800 False 1 0;0;0 1.29 False ENSG00000118520 ENSG00000118520 HGNC:663 CYP7A1 gene CYP7A1 Emory Genetics Laboratory;Expert Review Red Neonatal cholestasis Liver disease Gastroenterological disorders Neonatal and Adult Cholestasis 29529257;29498526 False 1 0;50;50 1.29 False ENSG00000167910 ENSG00000167910 HGNC:2651 DHCR7 gene DHCR7 Emory Genetics Laboratory;Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome 270400 False 1 0;0;100 1.29 False ENSG00000172893 ENSG00000172893 HGNC:2860 EHHADH gene EHHADH Emory Genetics Laboratory;Expert Review Red Neonatal cholestasis Liver disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Fanconi renotubular syndrome 3 615605 False 1 0;0;0 1.29 False ENSG00000113790 ENSG00000113790 HGNC:3247 EPHX1 gene EPHX1 Expert Review Red;UKGTN Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal ?Hypercholanemia, Familial 607748 12704386 False 1 0;0;0 1.29 False ENSG00000143819 ENSG00000143819 HGNC:3401 GPBAR1 gene GPBAR1 Emory Genetics Laboratory;Expert Review Red Neonatal cholestasis Liver disease Gastroenterological disorders Neonatal and Adult Cholestasis 26177448;16724960 False 1 0;0;0 1.29 False ENSG00000179921 ENSG00000179921 HGNC:19680 HSD17B4 gene HSD17B4 Emory Genetics Laboratory;Expert Review Red Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;D-bifunctional protein deficiency, 261515;peroxisomal bifunctional protein deficiency 22416181 False 1 0;0;100 1.29 False ENSG00000133835 ENSG00000133835 HGNC:5213 MYO5B gene MYO5B Expert list;Expert Review Red Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhea 2, with microvillus atrophy, OMIM:251850 18724368 False 1 0;0;100 1.29 False ENSG00000167306 ENSG00000167306 HGNC:7603 NPHP1 gene NPHP1 Emory Genetics Laboratory;Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders N/A False 1 0;0;100 1.29 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP4 gene NPHP4 Emory Genetics Laboratory;Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 4 606966;Senior-Loken syndrome 4 606996 False 1 0;0;100 1.29 False ENSG00000131697 ENSG00000131697 HGNC:19104 PEX11B gene PEX11B Emory Genetics Laboratory;Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal ?Peroxisome biogenesis disorder 14B 614920 28129423;22581968 False 1 0;0;0 1.29 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX5 gene PEX5 Emory Genetics Laboratory;Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger) 214110 False 1 0;0;0 1.29 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX7 gene PEX7 Emory Genetics Laboratory;Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders Peroxisome biogenesis disorder 9B 614879;Rhizomelic chondrodysplasia punctata, type 1 215100 False 1 0;0;0 1.29 False ENSG00000112357 ENSG00000112357 HGNC:8860 SCP2 gene SCP2 Emory Genetics Laboratory;Expert Review Red Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal ?Leukoencephalopathy with dystonia and motor neuropathy 613724 False 1 0;0;100 1.29 False ENSG00000116171 ENSG00000116171 HGNC:10606 SERPINA1 gene SERPINA1 Emory Genetics Laboratory;Expert Review Red;UKGTN;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis;Alpha-1 Antitrypsin Deficiency 26126923;26003074;24750955 False 1 50;50;0 1.29 False ENSG00000197249 ENSG00000197249 HGNC:8941 SLC10A1 gene SLC10A1 Emory Genetics Laboratory;Expert Review Red Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Sodium taurocholate cotransporting polypeptide deficiency 29658451;24867799;28835676;27882152;29290974 False 1 0;0;100 1.29 False ENSG00000100652 ENSG00000100652 HGNC:10905 SLC10A2 gene SLC10A2 Emory Genetics Laboratory;Expert Review Red Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Bile acid malabsorption, primary 613291 9109432 False 1 0;0;100 1.29 False ENSG00000125255 ENSG00000125255 HGNC:10906 SLC27A5 gene SLC27A5 Emory Genetics Laboratory;Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Neonatal and Adult Cholestasis 23415802;22089923 False 1 0;100;0 1.29 False ENSG00000083807 ENSG00000083807 HGNC:10999 SLC30A10 gene SLC30A10 Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, OMIM:613280 25778823;29193034;27117033;29179235 False 1 0;0;0 1.29 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC40A1 gene SLC40A1 Expert Review Red;Victorian Clinical Genetics Services Neonatal cholestasis Liver disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hemochromatosis, type 4 606069 False 1 0;0;0 1.29 False ENSG00000138449 ENSG00000138449 HGNC:10909 UTP4 gene UTP4 Expert Review Red;UKGTN Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal North American Indian Childhood Cirrhosis False 1 0;0;0 1.29 False ENSG00000141076 ENSG00000141076 HGNC:1983 WDR83OS gene WDR83OS Expert Review Neonatal cholestasis Liver disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis 30250217 False 1 0;0;100 1.29 False ENSG00000105583 ENSG00000105583 HGNC:30203