1. Genes and Genomic Entities
  2. PMPCA

PMPCA

peptidase, mitochondrial processing alpha subunit
OMIM: 613036, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green PMPCA in Mendeliome


Version 1.2302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
Green PMPCA in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.969

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Green PMPCA in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
    Green PMPCA in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.30

    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
    • Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
    Red PMPCA in Retinitis pigmentosa_Autosomal Recessive/X-linked


    Level 2: Ophthalmological disorders
    Version 0.155

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 2
    Green PMPCA in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
    Green PMPCA in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spinocerebellar ataxia 2, MIM#213200