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
ATP5A1	gene	ATP5A1	Expert Review Green;NHS GMS	Mitochondrial disorder with complex V deficiency		Mitochondrial	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228;Combined oxidative phosphorylation deficiency 22, OMIM: 616045				23596069;23599390;34483339;34954817		False	3	83;17;0	3.3	False		ENSG00000152234	ENSG00000152234	HGNC:823													
ATP5D	gene	ATP5D	Expert Review Green;NHS GMS	Mitochondrial disorder with complex V deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex V (ATP synthase) deficiency, 618120				29478781		False	3	100;0;0	3.3	False		ENSG00000099624	ENSG00000099624	HGNC:837													
ATP5E	gene	ATP5E	Expert Review Green;NHS GMS	Mitochondrial disorder with complex V deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053;mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547				20566710;25954304;34954817		False	3	80;20;0	3.3	True		ENSG00000124172	ENSG00000124172	HGNC:838													
ATP5G3	gene	ATP5G3	Expert Review Green;NHS GMS	Mitochondrial disorder with complex V deficiency		Mitochondrial	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681				34636445;34954817		False	3	60;40;0	3.3	True		ENSG00000154518	ENSG00000154518	HGNC:843													
ATP5O	gene	ATP5O	Expert Review Green;NHS GMS	Mitochondrial disorder with complex V deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359				34954817;35621276		False	3	60;40;0	3.3	True		ENSG00000241837	ENSG00000241837	HGNC:850													
ATPAF2	gene	ATPAF2	Expert Review Green;NHS GMS	Mitochondrial disorder with complex V deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273						False	3	67;33;0	3.3	False		ENSG00000171953	ENSG00000171953	HGNC:18802													
TMEM70	gene	TMEM70	Expert Review Green;NHS GMS	Mitochondrial disorder with complex V deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052						False	3	100;0;0	3.3	False		ENSG00000175606	ENSG00000175606	HGNC:26050													
ATP5B	gene	ATP5B	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex V deficiency		Mitochondrial	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085				36239646;36860166		False	2	25;75;0	3.3	True		ENSG00000110955	ENSG00000110955	HGNC:830													
ATP5C1	gene	ATP5C1	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex V deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	3.3	True		ENSG00000165629	ENSG00000165629	HGNC:833													
ATP5G1	gene	ATP5G1	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex V deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	3.3	True		ENSG00000159199	ENSG00000159199	HGNC:841													
ATP5G2	gene	ATP5G2	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex V deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	3.3	True		ENSG00000135390	ENSG00000135390	HGNC:842													
ATP5I	gene	ATP5I	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex V deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	3.3	True		ENSG00000169020	ENSG00000169020	HGNC:846													
ATP5J	gene	ATP5J	Expert Review Amber;NHS GMS	Mitochondrial disorder with complex V deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	2	33;67;0	3.3	True		ENSG00000154723	ENSG00000154723	HGNC:847