Periodic fever syndromes
Gene: PSMB8EnsemblGeneIds (GRCh38): ENSG00000204264
EnsemblGeneIds (GRCh37): ENSG00000204264
OMIM: 177046, Gene2Phenotype
PSMB8 is in 13 panels
1 review
Alice Gardham (Genomics England)
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
-
- Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
- Autoinflammation, lipodystrophy, and dermatosis syndrome
- OMIM
- 177046
- Clinvar variants
- Variants in PSMB8
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Periodic fever syndromes
- Fetal anomalies
- Autoinflammatory disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Monogenic diabetes
- Childhood interstitial lung disease
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Lipodystrophy - childhood onset
- Insulin resistance (including lipodystrophy)
- COVID-19 research
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PSMB8 were changed from 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)) to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040; Autoinflammation, lipodystrophy, and dermatosis syndrome
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
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))
Set publications
Alice Gardham (Genomics England)Publications for PSMB8 were set to 20159315; 21129723
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Rebecca Foulger (Genomics England curator)PSMB8 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)PSMB8 was added to Periodic fever syndromespanel. Sources: Other