Genomics England
GMS Panels
Panels
Genes and Entities

PTRH2

peptidyl-tRNA hydrolase 2
OMIM: 608625
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET, OMIM:616263
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263