Autoinflammatory disorders
Gene: PSMB8EnsemblGeneIds (GRCh38): ENSG00000204264
EnsemblGeneIds (GRCh37): ENSG00000204264
OMIM: 177046, Gene2Phenotype
PSMB8 is in 12 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 11:44 a.m. | Last Modified: 16 Feb 2022, 11:44 a.m.
Panel Version: 0.36
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
- Tags
- OMIM
- 177046
- Clinvar variants
- Variants in PSMB8
- Penetrance
- None
- Publications
- Panels with this gene
-
- Autoinflammatory disorders
- Monogenic diabetes
- Cytopenia - NOT Fanconi anaemia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- DDG2P
- Lipodystrophy - childhood onset
- Insulin resistance (including lipodystrophy)
- Intellectual disability
- Fetal anomalies
- COVID-19 research
- Periodic fever syndromes
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag digenic tag was added to gene: PSMB8.
Added New Source
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to PSMB8.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: PSMB8 was added gene: PSMB8 was added to Autoinflammatory disorders. Sources: Expert Review Green Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB8 were set to 21852578; 21953331; 20534754; 20159315; 21881205; 21129723 Phenotypes for gene: PSMB8 were set to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040