PSMB8

proteasome subunit beta 8
OMIM: 177046, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green PSMB8 in Periodic fever syndromes

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.15

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Autoinflammation, lipodystrophy, and dermatosis syndrome 256040 (Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome) and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE syndrome))

Green PSMB8 in COVID-19 research


Level 2: Viral research
Version 1.80

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2027
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Other autoinflammatory diseases with known genetic defect
  • chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE)
  • Contractures, panniculitis, ICC, fevers
  • Autoinflammatory Disorders
  • Autoinflammation, lipodystrophy, and dermatosis syndrome 256040
  • CANDLE syndrome

Red PSMB8 in Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.13

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040

Green PSMB8 in Primary immunodeficiency


Version 2.480
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Autoinflammation, lipodystrophy, and dermatosis syndrome 256040
  • Other autoinflammatory diseases with known genetic defect
  • CANDLE syndrome
  • chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE)
  • Contractures, panniculitis, ICC, fevers
  • Autoinflammatory Disorders

No list PSMB8 in Monogenic diabetes


Version 2.43
Latest signed off version: v2.2 (25 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040
Tags
  • curated_removed

Red PSMB8 in Cytopenia - NOT Fanconi anaemia


Version 1.43
Latest signed off version: v1.29 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert review Red
  • NHS GMS
  • North West GLH
  • London South GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040

Red PSMB8 in Fetal anomalies


Version 1.749
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NAKAJO SYNDROME

Green PSMB8 in DDG2P


Version 2.50
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NAKAJO SYNDROME 256040

    Red PSMB8 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.452
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Red
    • Expert list
    Phenotypes
    • Autoinflammation, lipodystrophy, and dermatosis syndrome 256040

    Amber PSMB8 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040

    Green PSMB8 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040