Mitochondrial disorder with complex V deficiency (Version: )

Relevant disorders: R357
Signed off date: 22 Mar 2023
Panel types: GMS Rare Disease, GMS signed-off
5 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A