PSMF1

proteasome inhibitor subunit 1
Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PSMF1 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
    • Literature
    Phenotypes
    • Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related

    Green PSMF1 in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.411

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related

    Green PSMF1 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related

    Green PSMF1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related

    Green PSMF1 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
    • Literature
    Phenotypes
    • Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related

    Green PSMF1 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related