PanelApp (staging)
  1. Genes and Genomic Entities
  2. PSMF1

PSMF1

proteasome inhibitor subunit 1
ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PSMF1 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.10

Component of the following Super Panels:

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

    		•  1 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 0.416

    		1 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 1.2302

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

    Green PSMF1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    		1 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 0.572

    		1 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 1.63

    		1 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 1.313

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