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 ABCG5 gene ABCG5 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Sitosterolemia 2, MIM# 618666 18441155 False 1 0;0;100 1.0 True ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Sitosterolemia 1, MIM# 210250 18441155 False 1 0;0;100 1.0 True ENSG00000143921 ENSG00000143921 HGNC:13887 ARG1 gene ARG1 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Argininemia, MIM# 207800 False 1 0;0;100 1.0 True ENSG00000118520 ENSG00000118520 HGNC:663 HADHA gene HADHA Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal LCHAD deficiency, MIM# 609016;Mitochondrial trifunctional protein deficiency, MIM# 609015 9003853 False 1 0;0;100 1.0 True ENSG00000084754 ENSG00000084754 HGNC:4801 HAMP gene HAMP Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2B, MIM# 613313 12469120 False 1 0;0;100 1.0 True ENSG00000105697 ENSG00000105697 HGNC:15598 HFE gene HFE Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, MIM# 235200 False 1 0;0;100 1.0 True ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2A, MIM# 602390 False 1 0;0;100 1.0 True ENSG00000168509 ENSG00000168509 HGNC:4887 INVS gene INVS Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile, MIM# 602088 10421642 False 1 0;0;100 1.0 True ENSG00000119509 ENSG00000119509 HGNC:17870 MKS1 gene MKS1 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 1, MIM# 249000 False 1 0;0;100 1.0 True ENSG00000011143 ENSG00000011143 HGNC:7121 MVK gene MVK Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria, MIM# 610377 False 1 0;0;100 1.0 True ENSG00000110921 ENSG00000110921 HGNC:7530 NPHP1 gene NPHP1 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 4 609583;Nephronophthisis 1, juvenile ,MIM# 256100;Senior-Loken syndrome-1 , MIM#266900 False 1 0;0;100 1.0 True ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP4 gene NPHP4 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 4, MIM# 606966;Senior-Loken syndrome 4, MIM# 606996 False 1 0;0;100 1.0 True ENSG00000131697 ENSG00000131697 HGNC:19104 PEX10 gene PEX10 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870 False 1 0;0;100 1.0 True ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B, MIM# 614920 False 1 0;0;100 1.0 True ENSG00000131779 ENSG00000131779 HGNC:8853 PEX13 gene PEX13 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger), MIM# 614883 False 1 0;0;100 1.0 True ENSG00000162928 ENSG00000162928 HGNC:8855 PEX16 gene PEX16 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887 False 1 0;0;100 1.0 True ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger), MIM# 614876 20683989 False 1 0;0;100 1.0 True ENSG00000162735 ENSG00000162735 HGNC:9713 PEX3 gene PEX3 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger), MIM# 614886 False 1 0;0;100 1.0 True ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882 False 1 0;0;100 1.0 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX7 gene PEX7 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110 False 1 0;0;100 1.0 True ENSG00000112357 ENSG00000112357 HGNC:8860 POLG gene POLG Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700 False 1 0;0;100 1.0 True ENSG00000140521 ENSG00000140521 HGNC:9179 PPM1F gene PPM1F Expert Review Red;Literature Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal sclerosing cholangitis;short stature;hypothyroidism;abnormal tongue pigmentatio 30250217 False 1 0;0;100 1.0 True ENSG00000100034 ENSG00000100034 HGNC:19388 SLC27A5 gene SLC27A5 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders Unknown Disorder of bile acid metabolism False 1 0;0;100 1.0 True ENSG00000083807 ENSG00000083807 HGNC:10999 SLC30A10 gene SLC30A10 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, MIM# 613280 False 1 0;0;100 1.0 True ENSG00000196660 ENSG00000196660 HGNC:25355 SLC40A1 gene SLC40A1 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemochromatosis, type 4, MIM# 606069 False 1 0;0;100 1.0 True ENSG00000138449 ENSG00000138449 HGNC:10909 SLC51A gene SLC51A Expert Review Red;Literature Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Cholestasis, progressive familial intrahepatic, 6, MIM# 619484" 31863603 False 1 0;0;100 1.0 True ENSG00000163959 ENSG00000163959 HGNC:29955 SLC51B gene SLC51B Expert Review Red;Literature Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Bile acid malabsorption, primary, 2, MIM# 619481;Congenital diarrhoea;Cholestasis 28898457 False 1 0;0;100 1.0 True ENSG00000186198 ENSG00000186198 HGNC:29956 SMPD1 gene SMPD1 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease False 1 0;0;100 1.0 True ENSG00000166311 ENSG00000166311 HGNC:11120 TFR2 gene TFR2 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Haemochromatosis, type 3 (MIM#604250) 24847265;29743178 False 1 0;0;100 1.0 True ENSG00000106327 ENSG00000106327 HGNC:11762 TMEM216 gene TMEM216 Expert Review Red;Victorian Clinical Genetics Services Cholestasis Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 2, MIM# 603194 False 1 0;0;100 1.0 True ENSG00000187049 ENSG00000187049 HGNC:25018