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													
