Genomics England
GMS Panels
Panels
Genes and Entities

Mitochondrial Complex V deficiency, TMEM70 type (Version: )

Relevant disorders: R396, GT970, TP303
Signed off date: 12 Aug 2026
Panel types: GMS Rare Disease, GMS signed-off
See this panel in PanelApp
1 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
TMEM70
BIALLELIC, autosomal or pseudoautosomalN/AN/A