Genomics England
GMS Panels
Panels
Genes and Entities

PTRHD1

peptidyl-tRNA hydrolase domain containing 1
OMIM: 617342
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, OMIM:620747