Genes in panel
STRs in panel
Prev Next

COVID-19 research

Gene: PSMB10

Amber List (moderate evidence)

PSMB10 (proteasome subunit beta 10)
EnsemblGeneIds (GRCh38): ENSG00000205220
EnsemblGeneIds (GRCh37): ENSG00000205220
OMIM: 176847, Gene2Phenotype
PSMB10 is in 2 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Not associated with phenotype in OMIM (last edited on 06/25/2007) or in Gen2Phen. PMID 31783057 reports a case of Proteasome-associated autoinflammatory syndrome in an infant with a biallelic variant (c.41T>C, p.Phe14Ser), together with supporting functional studies.
Created: 14 Apr 2020, 1:51 p.m. | Last Modified: 14 Apr 2020, 1:51 p.m.
Panel Version: 0.85

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene for review. Single case recommend Red rating
Created: 26 Feb 2020, 4:32 p.m. | Last Modified: 26 Feb 2020, 4:32 p.m.
Panel Version: 2.6
New gene suggested by expert reviewer- unable to do a full curational review (Green rating recommended) as we are waiting for new PanelApp features before this gene can be added to this GMS panel.
Created: 22 Jan 2020, 11:37 a.m. | Last Modified: 22 Jan 2020, 11:37 a.m.
Panel Version: 2.0

Owen Siggs (Flinders University)

I don't know

Single case, homozygous missense variant, good functional experimental support.
Sources: Literature
Created: 18 Jan 2020, 7:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Proteasome-associated autoinflammatory syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Proteasome-associated autoinflammatory syndrome (PRAAS)
OMIM
176847
Clinvar variants
Variants in PSMB10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: psmb10 has been classified as Amber List (Moderate Evidence).

14 Apr 2020, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PSMB10 were changed from Proteasome-associated autoinflammatory syndrome to Proteasome-associated autoinflammatory syndrome (PRAAS)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PSMB10 was added gene: PSMB10 was added to Viral susceptibility. Sources: Expert Review Red,Literature Mode of inheritance for gene: PSMB10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB10 were set to 31783057 Phenotypes for gene: PSMB10 were set to Proteasome-associated autoinflammatory syndrome