Genomics England

Genes and Entities

Mitochondrial disorder with complex V deficiency (Version: )

Relevant disorders: R357

Signed off date: 13 Mar 2025

Panel types: GMS Rare Disease, GMS signed-off

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7 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
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	ATP5E	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP5G3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	ATP5O	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATPAF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM70	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A