Genomics England

Mitochondrial DNA maintenance disorder (Version: )

Relevant disorders: R352, GT1167, TP138

Signed off date: 12 Aug 2026

Panel types: GMS Rare Disease, GMS signed-off

25 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABAT	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	DGUOK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNA2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DNM2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIG3	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	MPV17	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	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	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	SLC25A4	BOTH monoallelic and 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	digenic, Q1_26_MOI
Green	SSBP1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SUCLA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUCLG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TFAM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TK2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOP3A	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

Mitochondrial DNA maintenance disorder (Version: 3.103.02.01.2)

Mitochondrial DNA maintenance disorder (Version: )