PPIA:Ensemblv90

peptidylprolyl isomerase A
OMIM: 123840, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red PPIA in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.52

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • amyotrophic lateral sclerosis, MONDO:0004976, PPIA-associated

    Red PPIA in Mendeliome


    Version 1.3802

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • amyotrophic lateral sclerosis, MONDO:0004976

    Red PPIA in Early-onset Dementia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • amyotrophic lateral sclerosis, MONDO:0004976, PPIA-associated