Periodic fever syndromes

Gene: PSMB8

Green List (high evidence)

PSMB8 (proteasome subunit beta 8)
EnsemblGeneIds (GRCh38): ENSG00000204264
EnsemblGeneIds (GRCh37): ENSG00000204264
OMIM: 177046, Gene2Phenotype
PSMB8 is in 11 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Recognised by Royal Free Periodic Fever service as a cause of inherited fevers.
Created: 2 Feb 2017, 11:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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))

Publications

Details

Mode of Inheritance
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))
OMIM
177046
Clinvar variants
Variants in PSMB8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

2 Feb 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for PSMB8 were set to 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))

2 Feb 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for PSMB8 were set to 20159315; 21129723

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

17 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

PSMB8 was created by rfoulger

17 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

PSMB8 was added to Periodic fever syndromespanel. Sources: Other