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
ABCD3	gene	ABCD3	Expert Review;Expert Review Amber	Liver Failure_Paediatric		Gastroenterological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Bile acid synthesis defect, congenital, 5 (MIM#616278)			Liver failure;HP:0001399	25168382		False	2	0;100;0	1.25	True		ENSG00000117528	ENSG00000117528	HGNC:67													
MRM2	gene	MRM2	Expert list;Expert Review Amber	Liver Failure_Paediatric		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	"Mitochondrial DNA depletion syndrome 17, MIM#	618567"			Liver failure;HP:0001399	28973171		False	2	0;100;0	1.25	True		ENSG00000122687	ENSG00000122687	HGNC:16352													
MTM1	gene	MTM1	Expert Review Amber;Literature	Liver Failure_Paediatric		Gastroenterological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Myopathy, centronuclear, X-linked, MIM# 310400			Liver failure;HP:0001399	PMID: 37490339		False	2	0;100;0	1.25	True		ENSG00000171100	ENSG00000171100	HGNC:7448													
POLG2	gene	POLG2	Expert list;Expert Review Amber	Liver Failure_Paediatric		Gastroenterological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"Mitochondrial DNA depletion syndrome 16 (hepatic type), MIM#	618528;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, MIM# 4	610131"			Liver failure;HP:0001399	27592148;30157269;21555342		False	2	0;100;0	1.25	True		ENSG00000256525	ENSG00000256525	HGNC:9180													
TFAM	gene	TFAM	Expert list;Expert Review Amber	Liver Failure_Paediatric		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156			Liver failure;HP:0001399	27448789;29021295;9500544		False	2	0;100;0	1.25	True		ENSG00000108064	ENSG00000108064	HGNC:11741													
TKFC	gene	TKFC	Expert list;Expert Review Amber	Liver Failure_Paediatric		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Triokinase and FMN cyclase deficiency syndrome, MIM#618805;Developmental delay;cataracts;liver dysfunction			Liver failure;HP:0001399	32004446		False	2	0;100;0	1.25	True		ENSG00000149476	ENSG00000149476	HGNC:24552													
YKT6	gene	YKT6	Expert Review Amber;Literature	Liver Failure_Paediatric		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Syndromic disease, MONDO:0002254, YKT6-related			Liver failure;HP:0001399	38522068		False	2	0;100;0	1.25	True		ENSG00000106636	ENSG00000106636	HGNC:16959