PanelApp (test)
  1. Genes and Genomic Entities
  2. PTRHD1

PTRHD1

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PTRHD1 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.3

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747

    Green PTRHD1 in Mendeliome


    Version 1.1902

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747

    Green PTRHD1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747