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
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