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
CFTR	gene	CFTR	Expert Review Amber;Victorian Clinical Genetics Services	Cholestasis		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Cystic fibrosis, MIM# 219700				25097709		False	2	0;100;0	1.0	True		ENSG00000001626	ENSG00000001626	HGNC:1884													
DHCR7	gene	DHCR7	Expert Review Amber;Victorian Clinical Genetics Services	Cholestasis		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Smith-Lemli-Opitz syndrome, MIM# 270400				20052364		False	2	0;100;0	1.0	True		ENSG00000172893	ENSG00000172893	HGNC:2860													
IARS	gene	IARS	Expert Review Amber;Victorian Clinical Genetics Services	Cholestasis		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093				27426735;27891590		False	2	50;50;0	1.0	True		ENSG00000196305	ENSG00000196305	HGNC:5330													
LARS	gene	LARS	Expert Review Amber;NHS GMS	Cholestasis		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Infantile liver failure syndrome 1, MIM# 615438				28774368;30349989;22607940		False	2	50;50;0	1.0	True		ENSG00000133706	ENSG00000133706	HGNC:6512													
LIPA	gene	LIPA	Expert Review Amber;Victorian Clinical Genetics Services	Cholestasis		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Cholesteryl ester storage disease, MIM# 278000;Wolman disease, MIM# 278000						False	2	0;100;0	1.0	True		ENSG00000107798	ENSG00000107798	HGNC:6617													
LSR	gene	LSR	Expert Review Amber;Literature	Cholestasis		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	transient neonatal cholestasis;intellectual disability;short stature				32303357;30250217		False	2	0;100;0	1.0	True		ENSG00000105699	ENSG00000105699	HGNC:29572													
MMP15	gene	MMP15	Expert Review Amber;Literature	Cholestasis		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Cholestasis;Congenital heart disease				33875846		False	2	0;100;0	1.0	True		ENSG00000102996	ENSG00000102996	HGNC:7161													
MPI	gene	MPI	Expert Review Amber;Victorian Clinical Genetics Services	Cholestasis		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ib, MIM# 602579						False	2	0;100;0	1.0	True		ENSG00000178802	ENSG00000178802	HGNC:7216													
PEX14	gene	PEX14	Expert Review Amber;Victorian Clinical Genetics Services	Cholestasis		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887				21686775;18285423		False	2	0;100;0	1.0	True		ENSG00000142655	ENSG00000142655	HGNC:8856													
PLEC	gene	PLEC	Expert Review Amber;Literature	Cholestasis		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Progressive familial intrahepatic cholestasis, MONDO:0015762, PLEC-related				39168815		False	2	0;100;0	1.0	True		ENSG00000178209	ENSG00000178209	HGNC:9069													
SEMA7A	gene	SEMA7A	Expert list;Expert Review Amber	Cholestasis		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874				34585848		False	2	0;100;0	1.0	True		ENSG00000138623	ENSG00000138623	HGNC:10741													
TRMU	gene	TRMU	Expert Review Amber;Victorian Clinical Genetics Services	Cholestasis		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Liver failure, transient infantile, MIM# 613070						False	2	0;100;0	1.0	True		ENSG00000100416	ENSG00000100416	HGNC:25481