1. Genes and Genomic Entities
  2. PTRHD1

PTRHD1

peptidyl-tRNA hydrolase domain containing 1
OMIM: 617342, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green PTRHD1 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.121

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, OMIM:620747
Green PTRHD1 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert Review
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, OMIM:620747