Genomics England

Possible mitochondrial disorder - nuclear genes (Version: )

Relevant disorders: R63

Signed off date: 6 Dec 2023

Panel types: GMS Rare Disease, GMS signed-off

236 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB7	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ACAD9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACO2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	AFG3L2	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	AGK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIFM1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ANO10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APOPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	APTX	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATAD3A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATP5A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP5D	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP5G3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	ATPAF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCS1L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BOLA3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C12orf65	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C19orf70	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C1QBP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA5A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHCHD10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CLPB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CLPP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COA6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COA7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX20	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX4I1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX7B	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CYC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DGUOK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNA2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DNAJC19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNM1L	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNM2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ECHS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELAC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETHE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FASTKD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FDX2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FDXR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLAD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXRED1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GARS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name
Green	GDAP1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	GFER	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLRX5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HCCS	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HIBCH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HLCS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B10	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HSPD1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HTRA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IBA57	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCU	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	founder-effect, non-coding-known-pathogenic
Green	KARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	LARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIAS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIG3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LONP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRPPRC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYRM4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYRM7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MDH2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MECR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFN2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MGME1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MIPEP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPV17	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPL3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPL44	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS22	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS34	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSTO1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MTFMT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTPAP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NADK2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAXE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA1	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NDUFA10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF8	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	NDUFB10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFB11	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NDUFB3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFB8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFV1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFV2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NFS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NFU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NSUN3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUBPL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OPA1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	OPA3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDHA1	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PDHB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDHX	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PET100	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	POLG2	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	POLRMT	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PPA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	QRSL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RMND1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RRM2B	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	RTN4IP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SACS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCO2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHA	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SDHAF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERAC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SFXN4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A26	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A32	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable, gene-checked
Green	SLC25A38	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A42	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A46	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG7	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SQOR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SSBP1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	SUCLA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUCLG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SURF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TACO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAZ	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	TFAM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIMM50	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIMM8A	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TIMMDC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TK2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM126B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM70	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOP3A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIT1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TRMT10C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMT5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMU	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSFM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUFM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TWNK	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	TYMP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCRB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCRC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCRFS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Possible mitochondrial disorder - nuclear genes (Version: 3.693.02.01.17)

Possible mitochondrial disorder - nuclear genes (Version: )