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
BCS1L	gene	BCS1L	Expert Review Green;NHS GMS	Mitochondrial liver disease, including transient infantile liver failure		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 1, 124000;Leigh syndrome, 256000						False	3	100;0;0	1.14	False		ENSG00000074582	ENSG00000074582	HGNC:1020													
DGUOK	gene	DGUOK	Expert Review Green;NHS GMS	Mitochondrial liver disease, including transient infantile liver failure		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070						False	3	100;0;0	1.14	False		ENSG00000114956	ENSG00000114956	HGNC:2858													
MPV17	gene	MPV17	Expert Review Green;NHS GMS	Mitochondrial liver disease, including transient infantile liver failure		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810						False	3	100;0;0	1.14	False		ENSG00000115204	ENSG00000115204	HGNC:7224													
POLG	gene	POLG	Expert Review Green;NHS GMS	Mitochondrial liver disease, including transient infantile liver failure		Mitochondrial	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459;Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662;Progressive external ophthalmoplegia, autosomal dominant 1, 157640;Progressive external ophthalmoplegia, autosomal recessive 1, 258450						False	3	100;0;0	1.14	False		ENSG00000140521	ENSG00000140521	HGNC:9179													
TRMU	gene	TRMU	Expert Review Green;NHS GMS	Mitochondrial liver disease, including transient infantile liver failure		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	LIVER FAILURE, INFANTILE, TRANSIENT, 613070						False	3	100;0;0	1.14	False		ENSG00000100416	ENSG00000100416	HGNC:25481													
TWNK	gene	TWNK	Expert Review Green;NHS GMS	Mitochondrial liver disease, including transient infantile liver failure		Mitochondrial	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286;Perrault syndrome 5, OMIM:616138				30391088		False	3	100;0;0	1.14	False		ENSG00000107815	ENSG00000107815	HGNC:1160													
TFAM	gene	TFAM	Expert Review Amber;NHS GMS	Mitochondrial liver disease, including transient infantile liver failure		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156				27448789		False	2	0;0;100	1.14	False		ENSG00000108064	ENSG00000108064	HGNC:11741													
ACAD9	gene	ACAD9	Expert Review Red;NHS GMS	Mitochondrial liver disease, including transient infantile liver failure		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 20, 611126						False	1	50;0;50	1.14	True		ENSG00000177646	ENSG00000177646	HGNC:21497													
POLG2	gene	POLG2	Expert Review Red;NHS GMS	Mitochondrial liver disease, including transient infantile liver failure		Mitochondrial	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528;Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131				16685652;21555342;27592148;30157269;31778857		False	1	67;0;33	1.14	True		ENSG00000256525	ENSG00000256525	HGNC:9180													
RRM2B	gene	RRM2B	Expert Review Red;NHS GMS	Mitochondrial liver disease, including transient infantile liver failure		Mitochondrial	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type);Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077				27483465		False	1	67;0;33	1.14	True		ENSG00000048392	ENSG00000048392	HGNC:17296													
SCO1	gene	SCO1	Expert Review Red;NHS GMS	Mitochondrial liver disease, including transient infantile liver failure		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048						False	1	67;0;33	1.14	True		ENSG00000133028	ENSG00000133028	HGNC:10603