PanelApp
  1. Genes and Genomic Entities
  2. PSMB8

PSMB8

proteasome subunit beta 8
OMIM: 177046, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red PSMB8 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 2.6

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 1 and digenic forms, MIM# 256040

    Green PSMB8 in Lipodystrophy_Lipoatrophy


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.42

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Proteasome-associated autoinflammatory syndrome 1, MIM# 256040
    • MONDO:0054698

    Green PSMB8 in Mendeliome


    Version 1.4558

    		3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Proteasome-associated autoinflammatory syndrome 1, MIM# 256040
    • MONDO:0054698

    Green PSMB8 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 2.46

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Proteasome-associated autoinflammatory syndrome 1, MIM# 256040
    • MONDO:0054698

    Green PSMB8 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3)

    Red PSMB8 in Fetal anomalies


    Version 1.543

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Proteasome-associated autoinflammatory syndrome 1, MIM# 256040
    • MONDO:0054698

    Green PSMB8 in Prepair 1000+


    Level 2: Screening
    Version 2.15

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Proteasome-associated autoinflammatory syndrome 1, MIM# 256040
    • MONDO:0054698