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STRs in panel
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Primary immunodeficiency

Gene: PSMG2

Red List (low evidence)

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

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single individual reported.
Created: 11 Apr 2020, 7:14 a.m. | Last Modified: 11 Apr 2020, 7:14 a.m.
Panel Version: 2.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy

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
  • IUIS Classification December 2019
Phenotypes
  • CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy)
  • Panniculitis, lipodystrophy, autoimmune hemolytic anemia
  • Autoinflammatory Disorders
OMIM
609702
Clinvar variants
Variants in PSMG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene PSMG2 were updated from 32048120; 32086639 to 30664889; 32086639; 32048120

28 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: PSMG2 was added gene: PSMG2 was added to Primary immunodeficiency. 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 32048120; 32086639 Phenotypes for gene: PSMG2 were set to CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy); Panniculitis, lipodystrophy, autoimmune hemolytic anemia; Autoinflammatory Disorders