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This Panel is marked as Internal

Newborns main panel
Gene: PSMB8

PSMB8 (proteasome subunit beta 8)
EnsemblGeneIds (GRCh38): ENSG00000204264
EnsemblGeneIds (GRCh37): ENSG00000204264
OMIM: 177046, Gene2Phenotype
PSMB8 is in 12 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: 31046790 - 1 casePMID: 33512037 - 1 casePMID: 26567544 - 1 casePMID: 36211342 - 1 casePMID: 32513120 - 1 casePMID: 30387862 - 1 casePMID: 23942189 - 1 casePMID: 24001180 - 1 casedigenic cases not included
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 1

OMIM

Clinvar variants

Variants in PSMB8

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 PSMB8. 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 1 for gene: PSMB8

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 PSMB8. Added phenotypes Proteasome-associated autoinflammatory syndrome 1 for gene: PSMB8 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 PSMB8. Added phenotypes Proteasome-associated autoinflammatory syndrome 1 for gene: PSMB8 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 PSMB8. Added phenotypes Proteasome-associated autoinflammatory syndrome 1 for gene: PSMB8 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: PSMB8 was added gene: PSMB8 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal