This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
Gene: PSMB8
PSMB8 (proteasome subunit beta 8)
EnsemblGeneIds (GRCh38): ENSG00000204264
EnsemblGeneIds (GRCh37): ENSG00000204264
OMIM: 177046, Gene2Phenotype
PSMB8 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000204264
EnsemblGeneIds (GRCh37): ENSG00000204264
OMIM: 177046, Gene2Phenotype
PSMB8 is in 12 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- OMIM
- 177046
- Clinvar variants
- Variants in PSMB8
- Penetrance
- None
- Panels with this gene
-
- Periodic fever syndromes
- Monogenic diabetes
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Autoinflammatory disorders
- Early onset or syndromic epilepsy
- Lipodystrophy - childhood onset
- Insulin resistance (including lipodystrophy)
- COVID-19 research
- Fetal anomalies
- DDG2P
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: PSMB8 was added gene: PSMB8 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PSMB8 was set to Unknown