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Newborns main panel

Gene: PSMB10

Amber List (moderate evidence)
PSMB10 (proteasome subunit beta 10)
EnsemblGeneIds (GRCh38): ENSG00000205220
EnsemblGeneIds (GRCh37): ENSG00000205220
OMIM: 176847, Gene2Phenotype
PSMB10 is in 6 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 31783057 - 1 case
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 5
OMIM
176847
Clinvar variants
Variants in PSMB10
Penetrance
None
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 2

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PSMB10. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Proteasome-associated autoinflammatory syndrome 5 for gene: PSMB10

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PSMB10. Added phenotypes Proteasome-associated autoinflammatory syndrome 5 for gene: PSMB10 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PSMB10. Added phenotypes Proteasome-associated autoinflammatory syndrome 5 for gene: PSMB10 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PSMB10. Added phenotypes Proteasome-associated autoinflammatory syndrome 5 for gene: PSMB10 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: PSMB10 was added gene: PSMB10 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: PSMB10 was set to BIALLELIC, autosomal or pseudoautosomal