Genes in panel
STRs in panel
Prev Next

COVID-19 research

Gene: PSMG2

Green List (high evidence)

PSMG2 (proteasome assembly chaperone 2)
EnsemblGeneIds (GRCh38): ENSG00000128789
EnsemblGeneIds (GRCh37): ENSG00000128789
OMIM: 609702, Gene2Phenotype
PSMG2 is in 2 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Single patient but high degree of confidence in pathogenicity and similarity with phenotypes caused by mutations in other proteasome subunits
Created: 1 May 2020, 12:28 p.m. | Last Modified: 1 May 2020, 12:28 p.m.
Panel Version: 0.171

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CANDLE syndrome

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Autoinflammatory Disorders
  • Panniculitis, lipodystrophy, autoimmune hemolytic anemia
  • CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy)
OMIM
609702
Clinvar variants
Variants in PSMG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to PSMG2. Added phenotypes Panniculitis, lipodystrophy, autoimmune hemolytic anemia; CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy); Autoinflammatory Disorders for gene: PSMG2 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PSMG2 was added gene: PSMG2 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: PSMG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMG2 were set to 30664889; 32086639; 32048120 Phenotypes for gene: PSMG2 were set to Panniculitis, lipodystrophy, autoimmune hemolytic anemia; CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy); Autoinflammatory Disorders