Genomics England
GMS Panels
Panels
Genes and Entities

PTRH2

peptidyl-tRNA hydrolase 2
OMIM: 608625
PanelMode of inheritanceDetails
1 panel
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263