PanelApp (test)
  1. Genes and Genomic Entities
  2. PSMG2

PSMG2

proteasome assembly chaperone 2
OMIM: 609702, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red PSMG2 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 1.96

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Proteasome-associated autoinflammatory syndrome 4, MIM# 619183

    Red PSMG2 in Mendeliome


    Version 1.1902

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Proteasome-associated autoinflammatory syndrome 4, MIM# 619183
    • CANDLE syndrome
    • Chronic atypical neutrophilic dermatitis with lipodystrophy

    Red PSMG2 in Systemic Autoinflammatory Disease_Periodic Fever


    Level 2: Immunological disorders
    Version 1.47

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Proteasome-associated autoinflammatory syndrome 4, MIM# 619183
    • CANDLE syndrome
    • Chronic atypical neutrophilic dermatitis with lipodystrophy