PanelApp (stage)
  1. Genes and Genomic Entities
  2. PTRH2

PTRH2

peptidyl-tRNA hydrolase 2
OMIM: 608625, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PTRH2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263

Green PTRH2 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Miscellaneous disorders associated with mitochondrial dysfunction
    • neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:8000012

    Green PTRH2 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
    • Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263

    Green PTRH2 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263

    Green PTRH2 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.14

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Infantile multisystem neurologic, endocrine, and pancreatic disease (IMNPED) (MIM#616263)
    • Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy