Genomics England
GMS Panels
Panels
Genes and Entities
Mitochondrial disorder with complex V deficiency (Version:
2.0
1.2
)
There is a more recent signed-off version of this panel
Relevant disorders:
R357
Signed off date:
17 Feb 2020
Panel types:
GMS Rare Disease, GMS signed-off
See this panel in PanelApp
3 green entities
Entity rating
Entity
Mode of inheritance
Mode of pathogenicity
Tags
Green
ATP5D
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