PSMG2:Ensemblv90

proteasome assembly chaperone 2
OMIM: 609702, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red PSMG2 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

Component of the following Super Panels:

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

    Red PSMG2 in Mendeliome


    Version 1.3802

    1 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 Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 2.40

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 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 Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 3.0

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

    Red PSMG2 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 3.0

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