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
AMACR	gene	AMACR	Emory Genetics Laboratory;Expert Review Amber;Victorian Clinical Genetics Services	Neonatal cholestasis	Liver disease	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Neonatal and Adult Cholestasis;Bile acid synthesis defect, congenital, 4 214950				10655068;12512044		False	2	0;100;0	1.29	False		ENSG00000242110	ENSG00000242110	HGNC:451													
BCS1L	gene	BCS1L	Expert list;Expert Review Amber	Neonatal cholestasis	Liver disease	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	GRACILE syndrome;Cholestasis				11528392;9792866;12215968		False	2	0;0;0	1.29	False		ENSG00000074582	ENSG00000074582	HGNC:1020													
GNAS	gene	GNAS	Expert list;Expert Review Amber	Neonatal cholestasis	Liver disease	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	McCune-Albright syndrome;Cholestasis				10673080		False	2	0;0;0	1.29	False	Other - please provide details in the comments	ENSG00000087460	ENSG00000087460	HGNC:4392													
HAMP	gene	HAMP	Expert Review Amber;Victorian Clinical Genetics Services	Neonatal cholestasis	Liver disease	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Hemochromatosis, type 2B 613313				12469120;12915468		False	2	0;0;0	1.29	False		ENSG00000105697	ENSG00000105697	HGNC:15598													
HFE	gene	HFE	Expert Review Amber;Victorian Clinical Genetics Services	Neonatal cholestasis	Liver disease	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Hemochromatosis 235200				12060140		False	2	0;0;0	1.29	False		ENSG00000010704	ENSG00000010704	HGNC:4886													
HFE2	gene	HFE2	Expert Review Amber;Victorian Clinical Genetics Services	Neonatal cholestasis	Liver disease	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Hemochromatosis, type 2A 602390						False	2	0;0;0	1.29	False		ENSG00000168509	ENSG00000168509	HGNC:4887													
IARS	gene	IARS	Expert Review Amber;Victorian Clinical Genetics Services	Neonatal cholestasis	Liver disease	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 617093				27891590;27426735		False	2	0;0;0	1.29	False		ENSG00000196305	ENSG00000196305	HGNC:5330													
MKS1	gene	MKS1	Emory Genetics Laboratory;Expert Review Amber;Victorian Clinical Genetics Services	Neonatal cholestasis	Liver disease	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 1 249000						False	2	100;0;0	1.29	False		ENSG00000011143	ENSG00000011143	HGNC:7121													
NPHP3	gene	NPHP3	Emory Genetics Laboratory;Expert Review Amber;Victorian Clinical Genetics Services	Neonatal cholestasis	Liver disease	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Renal-hepatic-pancreatic dysplasia 208540				21845392;18371931;20007846;23686967		False	2	0;0;100	1.29	False		ENSG00000113971	ENSG00000113971	HGNC:7907													
TFR2	gene	TFR2	Expert Review Amber;Victorian Clinical Genetics Services	Neonatal cholestasis	Liver disease	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Hemochromatosis, type 3 604250				10802645;11313241;12130528;29985876		False	2	0;0;0	1.29	False		ENSG00000106327	ENSG00000106327	HGNC:11762													
TMEM216	gene	TMEM216	Emory Genetics Laboratory;Expert Review Amber;Victorian Clinical Genetics Services	Neonatal cholestasis	Liver disease	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Neonatal and Adult Cholestasis;Meckel syndrome 2 603194						False	2	0;0;100	1.29	False		ENSG00000187049	ENSG00000187049	HGNC:25018