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 ALG8 gene ALG8 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Polycystic liver disease Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic liver disease 3 with or without kidney cysts, OMIM:617874 28375157;15235028 False 3 100;0;0 1.32 True ENSG00000159063 ENSG00000159063 HGNC:23161 DNAJB11 gene DNAJB11 Expert Review Green;NHS GMS Polycystic liver disease Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 6 with or without polycystic liver disease, OMIM:618061 29706351 False 3 100;0;0 1.32 True ENSG00000090520 ENSG00000090520 HGNC:14889 GANAB gene GANAB Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Polycystic liver disease Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 3, OMIM:600666 29243290;27259053;28862642 False 3 100;0;0 1.32 True ENSG00000089597 ENSG00000089597 HGNC:4138 LRP5 gene LRP5 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Polycystic liver disease Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic liver disease 4 with or without kidney cysts, OMIM:617875 25920554 False 3 100;0;0 1.32 True ENSG00000162337 ENSG00000162337 HGNC:6697 PKD1 gene PKD1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Polycystic liver disease Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 1, OMIM:173900;Caroli disease, MONDO:0010913 8554072;3178424;9211343 False 3 100;0;0 1.32 True ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Polycystic liver disease Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 2, OMIM:613095;liver cysts 29321346 False 3 100;0;0 1.32 True ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Polycystic liver disease Gastrohepatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200;Caroli disease, MONDO:0010913 11135065;30211211;11919560;28862642;11337358 False 3 100;0;0 1.32 True ENSG00000170927 ENSG00000170927 HGNC:9016 PRKCSH gene PRKCSH Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Polycystic liver disease Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic liver disease 1 OMIM:174050 11047756;29038287;12529853;12577059 False 3 100;0;0 1.32 True ENSG00000130175 ENSG00000130175 HGNC:9411 SEC63 gene SEC63 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Polycystic liver disease Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic liver disease 2, OMIM:617004 15133510 False 3 100;0;0 1.32 True ENSG00000025796 ENSG00000025796 HGNC:21082 ALG9 gene ALG9 Expert Review Amber;Literature Polycystic liver disease Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal dominant polycystic kidney disease, MONDO:0004691;PCLD 31395617 False 2 0;100;0 1.32 False ENSG00000086848 ENSG00000086848 HGNC:15672 B9D1 gene B9D1 Emory Genetics Laboratory;Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Polycystic liver disease Gastrohepatology BIALLELIC, autosomal or pseudoautosomal ?Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 21763481;21493627 False 2 50;0;50 1.32 True ENSG00000108641 ENSG00000108641 HGNC:24123 RTEL1 gene RTEL1 Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen Polycystic liver disease Gastrohepatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 5 (615190);Dyskeratosiscongenita, autosomal dominant 4 (615190) 28495916 False 2 0;100;0 1.32 True ENSG00000258366 ENSG00000258366 HGNC:15888 SEC61B gene SEC61B Expert list;Expert Review Amber;Literature;NHS GMS Polycystic liver disease Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Association with polycystic liver disease 1 with or without renal cysts;Polycystic liver disease 1, MONDO:0008265 28862642 False 2 67;33;0 1.32 True ENSG00000106803 ENSG00000106803 HGNC:16993 STN1 gene STN1 Expert list;Expert Review Amber;NHS GMS Polycystic liver disease Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341 27432940 False 2 0;100;0 1.32 True ENSG00000107960 ENSG00000107960 HGNC:26200 TERC gene TERC Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen Polycystic liver disease Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosiscongenita, autosomal dominant 1, OMIM:127550 21436073;19936245;22341970 False 2 0;100;0 1.32 True ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;NHS GMS Polycystic liver disease Gastrohepatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Dyskeratosis congenita, autosomal dominant 2}, OMIM:613989;{Dyskeratosis congenita, autosomal recessive 4}, OMIM:613989 21436073;19936245;21483807 False 2 0;100;0 1.32 True ENSG00000164362 ENSG00000164362 HGNC:11730 CC2D2A gene CC2D2A Expert Review Red;NHS GMS Polycystic liver disease Gastrohepatology BIALLELIC, autosomal or pseudoautosomal COACH syndrome (216360);congenital hepatic fibrosis;Joubert syndrome 9 (612285);Meckel syndrome 6 (612284) 19574260;18513680 False 1 0;0;0 1.32 True ENSG00000048342 ENSG00000048342 HGNC:29253 DGUOK gene DGUOK Expert Review Red;NHS GMS Polycystic liver disease Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Portal hypertension, noncirrhotic (617068) 30234759;17073823;26874653 False 1 0;0;0 1.32 True ENSG00000114956 ENSG00000114956 HGNC:2858 RPGRIP1L gene RPGRIP1L Expert Review Red;NHS GMS Polycystic liver disease Gastrohepatology BIALLELIC, autosomal or pseudoautosomal COACH syndrome (216360);Joubert syndrome 7 (611560);Meckel syndrome 5 (611561) 19574260;17558409 False 1 0;0;0 1.32 True ENSG00000103494 ENSG00000103494 HGNC:29168 TMEM67 gene TMEM67 Expert Review Red;NHS GMS Polycystic liver disease Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 6 (310688);{Bardet-Biedl syndrome 14, modifier of} (615991);Meckel syndrome 3 (607361);Nephronophthisis 11 (613550);congenital hepatic fibrosis;COACH syndrome (216360) 16415887;28680603;19058225;26191240 False 1 0;0;0 1.32 True ENSG00000164953 ENSG00000164953 HGNC:28396