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;Expert Review Amber Liverome Superpanel Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 5 (MIM#616278) Abnormality of the liver;HP:0001392 25168382 False 2 0;100;0 2.1 True ENSG00000117528 ENSG00000117528 HGNC:67 ALG9 gene ALG9 Expert Review Amber;Expert list Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver and kidney disease Abnormality of the liver;HP:0001392 31395617;30652979 False 2 0;100;0 2.1 True ENSG00000086848 ENSG00000086848 HGNC:15672 BLVRA gene BLVRA Expert Review Amber Liverome Superpanel Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;hyperbiliverdinemia MONDO:0013595 Abnormality of the liver;HP:0001392 19580635, 21278388 False 2 0;0;0 2.1 False ENSG00000106605 ENSG00000106605 HGNC:1062 CFTR gene CFTR Expert Review Amber;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cystic fibrosis, MIM# 219700 Abnormality of the liver;HP:0001392 25097709 False 2 0;100;0 2.1 True ENSG00000001626 ENSG00000001626 HGNC:1884 CYB5A gene CYB5A Expert Review Amber Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;methemoglobinemia type 4 MONDO:0009605 Abnormality of the liver;HP:0001392 22170710, 20080843, 32051920, 3951505 False 2 0;0;0 2.1 False ENSG00000166347 ENSG00000166347 HGNC:2570 DHCR7 gene DHCR7 Expert Review Amber;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, MIM# 270400 Abnormality of the liver;HP:0001392 20052364 False 2 0;100;0 2.1 True ENSG00000172893 ENSG00000172893 HGNC:2860 GATA1 gene GATA1 Expert Review Amber;Royal Melbourne Hospital Liverome Superpanel Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367;Congenital erythropoietic porphyria Abnormality of the liver;HP:0001392 25251786;17148589 False 2 0;100;0 2.1 True ENSG00000102145 ENSG00000102145 HGNC:4170 IARS gene IARS Expert Review Amber;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 Abnormality of the liver;HP:0001392 27426735;27891590 False 2 50;50;0 2.1 True ENSG00000196305 ENSG00000196305 HGNC:5330 LARS gene LARS Expert Review Amber;NHS GMS Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 1, MIM# 615438 Abnormality of the liver;HP:0001392 28774368;30349989;22607940 False 2 50;50;0 2.1 True ENSG00000133706 ENSG00000133706 HGNC:6512 LIPA gene LIPA Expert Review Amber;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholesteryl ester storage disease, MIM# 278000;Wolman disease, MIM# 278000 Abnormality of the liver;HP:0001392 False 2 0;100;0 2.1 True ENSG00000107798 ENSG00000107798 HGNC:6617 LSR gene LSR Expert Review Amber;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal transient neonatal cholestasis;intellectual disability;short stature Abnormality of the liver;HP:0001392 32303357;30250217 False 2 0;100;0 2.1 True ENSG00000105699 ENSG00000105699 HGNC:29572 MMP15 gene MMP15 Expert Review Amber;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis;Congenital heart disease Abnormality of the liver;HP:0001392 33875846 False 2 0;100;0 2.1 True ENSG00000102996 ENSG00000102996 HGNC:7161 MPI gene MPI Expert Review Amber;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, MIM# 602579 Abnormality of the liver;HP:0001392 False 2 0;100;0 2.1 True ENSG00000178802 ENSG00000178802 HGNC:7216 MRM2 gene MRM2 Expert Review Amber;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 17, MIM# 618567" Abnormality of the liver;HP:0001392 28973171 False 2 0;100;0 2.1 True ENSG00000122687 ENSG00000122687 HGNC:16352 MTM1 gene MTM1 Expert Review Amber;Literature Liverome Superpanel Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Myopathy, centronuclear, X-linked, MIM# 310400 Abnormality of the liver;HP:0001392 PMID: 37490339 False 2 0;100;0 2.1 True ENSG00000171100 ENSG00000171100 HGNC:7448 PEX14 gene PEX14 Expert Review Amber;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887 Abnormality of the liver;HP:0001392 21686775;18285423 False 2 0;100;0 2.1 True ENSG00000142655 ENSG00000142655 HGNC:8856 PLEC gene PLEC Expert Review Amber;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Progressive familial intrahepatic cholestasis, MONDO:0015762, PLEC-related Abnormality of the liver;HP:0001392 39168815 False 2 0;100;0 2.1 True ENSG00000178209 ENSG00000178209 HGNC:9069 POLG2 gene POLG2 Expert Review Amber;Expert list Liverome Superpanel Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 16 (hepatic type), MIM# 618528;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, MIM# 4 610131" Abnormality of the liver;HP:0001392 27592148;30157269;21555342 False 2 0;100;0 2.1 True ENSG00000256525 ENSG00000256525 HGNC:9180 SEC16B gene SEC16B Expert Review Amber;Expert Review Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related Abnormality of the liver;HP:0001392 28375157;28862642;30652979 False 2 0;100;0 2.1 True ENSG00000120341 ENSG00000120341 HGNC:30301 SEC61B gene SEC61B Expert Review Amber;Expert list Liverome Superpanel Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease with or without renal cysts Abnormality of the liver;HP:0001392 28862642;30652979;28375157 False 2 0;100;0 2.1 True ENSG00000106803 ENSG00000106803 HGNC:16993 SEMA7A gene SEMA7A Expert Review Amber;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874 Abnormality of the liver;HP:0001392 34585848 False 2 0;100;0 2.1 True ENSG00000138623 ENSG00000138623 HGNC:10741 TFAM gene TFAM Expert Review Amber;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156 Abnormality of the liver;HP:0001392 27448789;29021295;9500544 False 2 0;100;0 2.1 True ENSG00000108064 ENSG00000108064 HGNC:11741 TKFC gene TKFC Expert Review Amber;Expert list Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Triokinase and FMN cyclase deficiency syndrome, MIM#618805;Developmental delay;cataracts;liver dysfunction Abnormality of the liver;HP:0001392 32004446 False 2 0;100;0 2.1 True ENSG00000149476 ENSG00000149476 HGNC:24552 TRMU gene TRMU Expert Review Amber;Victorian Clinical Genetics Services Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Liver failure, transient infantile, MIM# 613070 Abnormality of the liver;HP:0001392 False 2 0;100;0 2.1 True ENSG00000100416 ENSG00000100416 HGNC:25481 YKT6 gene YKT6 Expert Review Amber;Literature Liverome Superpanel Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, YKT6-related Abnormality of the liver;HP:0001392 38522068 False 2 0;100;0 2.1 True ENSG00000106636 ENSG00000106636 HGNC:16959