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Newborns main panel

Gene: PSMG2

Amber List (moderate evidence)
PSMG2 (proteasome assembly chaperone 2)
EnsemblGeneIds (GRCh38): ENSG00000128789
EnsemblGeneIds (GRCh37): ENSG00000128789
OMIM: 609702, Gene2Phenotype
PSMG2 is in 2 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: 30664889 - 1casePMID: 31874111 - 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 4
OMIM
609702
Clinvar variants
Variants in PSMG2
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PSMG2. Added phenotypes Proteasome-associated autoinflammatory syndrome 4 for gene: PSMG2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

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 PSMG2. Added phenotypes Proteasome-associated autoinflammatory syndrome 4 for gene: PSMG2 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 PSMG2. Added phenotypes Proteasome-associated autoinflammatory syndrome 4 for gene: PSMG2 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 PSMG2. Added phenotypes Proteasome-associated autoinflammatory syndrome 4 for gene: PSMG2 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: PSMG2 was added gene: PSMG2 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: PSMG2 was set to BIALLELIC, autosomal or pseudoautosomal