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
ERCC1	gene	ERCC1	Expert Review Amber;Literature	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	hepatorenal syndrome, MONDO:0001382				40684071		False	2	100;0;0	3.19	False		ENSG00000012061	ENSG00000012061	HGNC:3433													
FARSA	gene	FARSA	Expert Review Amber;Literature	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013				31355908;33598926		False	2	0;0;100	3.19	False		ENSG00000179115	ENSG00000179115	HGNC:3592													
FARSB	gene	FARSB	Expert Review Amber;Literature	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Rajab interstitial lung disease with brain calcifications, 613658				29573043;29979980;30014610		False	2	0;0;0	3.19	False		ENSG00000116120	ENSG00000116120	HGNC:17800													
GBE1	gene	GBE1	Expert list;Expert Review Amber;NHS GMS	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Glycogen storage disease IV, OMIM:232500				8613547;20301758		False	2	0;100;0	3.19	False		ENSG00000114480	ENSG00000114480	HGNC:4180													
GNAS	gene	GNAS	Expert list;Expert Review Amber;NHS GMS;Other	Cholestasis		Gastrohepatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	McCune-Albright syndrome;Cholestasis				10673080		False	2	100;0;0	3.19	True	Other - please provide details in the comments	ENSG00000087460	ENSG00000087460	HGNC:4392													
IARS	gene	IARS	Expert list;Expert Review Amber	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093				27426735;27891590		False	2	0;100;0	3.19	False		ENSG00000196305	ENSG00000196305	HGNC:5330													
LSR	gene	LSR	Expert Review Amber;Literature	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	transient neonatal cholestasis;intellectual disability;short stature				32303357;30250217		False	2	0;100;0	3.19	False		ENSG00000105699	ENSG00000105699	HGNC:29572													
MMP15	gene	MMP15	Expert Review Amber;Literature	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Cholestasis, MONDO:0001751;congenital heart disease, MONDO:0005453				33875846		False	2	100;0;0	3.19	False		ENSG00000102996	ENSG00000102996	HGNC:7161													
NPHP3	gene	NPHP3	Expert list;Expert Review Amber	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Renal-hepatic-pancreatic dysplasia 1, 208540				18371931;20007846;32341812;23686967		False	2	100;0;0	3.19	False		ENSG00000113971	ENSG00000113971	HGNC:7907													
PEX14	gene	PEX14	Expert list;Expert Review Amber	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 13A (Zellweger), 614887				21686775;18285423;15146459		False	2	0;100;0	3.19	False		ENSG00000142655	ENSG00000142655	HGNC:8856													
PEX2	gene	PEX2	Expert Review Amber;NHS GMS;Other	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Neonatal and Adult Cholestasis;Peroxisome Biogenesis Disorder 5A (Zellweger), 614866				14630978;1546315;2454948		False	2	0;100;0	3.19	False		ENSG00000164751	ENSG00000164751	HGNC:9717													
SCYL1	gene	SCYL1	Expert Review Amber;Literature	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	cholestasis, MONDO:0001751;acute liver failure, MONDO:0019542;Spinocerebellar ataxia, autosomal recessive 21, OMIM:616719				29419818;30842961;33442927		False	2	100;0;0	3.19	False		ENSG00000142186	ENSG00000142186	HGNC:14372													
VPS50	gene	VPS50	Expert Review Amber;Literature	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Neonatal cholestatic liver disease;Failure to thrive;Profound global developmental delay;Postnatal microcephaly;Seizures;Abnormality of the corpus callosum				34037727		False	2	0;100;0	3.19	False		ENSG00000004766	ENSG00000004766	HGNC:25956