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
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