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Newborns main panel

Gene: PSMB9

Amber List (moderate evidence)
PSMB9 (proteasome subunit beta 9)
EnsemblGeneIds (GRCh38): ENSG00000240065
EnsemblGeneIds (GRCh37): ENSG00000240065
OMIM: 177045, Gene2Phenotype
PSMB9 is in 4 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is dominant-negative (DN).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 34819510 - 2 unrelated Japanese patients. PMID: 33727065 - 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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • PSMB9 associated proteasome-associated autoinflammatory syndrome
OMIM
177045
Clinvar variants
Variants in PSMB9
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
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 PSMB9. 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 PSMB9 associated proteasome-associated autoinflammatory syndrome for gene: PSMB9

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 PSMB9. Added phenotypes PSMB9 associated proteasome-associated autoinflammatory syndrome for gene: PSMB9 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 PSMB9. Added phenotypes PSMB9 associated proteasome-associated autoinflammatory syndrome for gene: PSMB9 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PSMB9. Mode of pathogenicity for gene PSMB9 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes PSMB9 associated proteasome-associated autoinflammatory syndrome for gene: PSMB9 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: PSMB9 was added gene: PSMB9 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: PSMB9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown