Genomics England
GMS Panels
Panels
Genes and Entities

AMPD1

adenosine monophosphate deaminase 1
OMIM: 102770
PanelMode of inheritanceDetails
1 panel
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy due to myoadenylate deaminase deficiency, OMIM:615511