Genomics England
GMS Panels
Panels
Genes and Entities

PTRH2

peptidyl-tRNA hydrolase 2
OMIM: 608625
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
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 7.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.163
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263