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  3. PSMG2
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Autoinflammatory Disorders

Gene: PSMG2

Red List (low evidence)
PSMG2 (proteasome assembly chaperone 2)
EnsemblGeneIds (GRCh38): ENSG00000128789
EnsemblGeneIds (GRCh37): ENSG00000128789
OMIM: 609702, Gene2Phenotype
PSMG2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported.
Sources: Expert list
Created: 5 Apr 2020, 11:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Proteasome-associated autoinflammatory syndrome 4, MIM# 619183; CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy

Publications

Created: 5 Apr 2020, 11:36 p.m.

Panel version: 0.102

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 4, MIM# 619183
  • CANDLE syndrome
  • Chronic atypical neutrophilic dermatitis with lipodystrophy
OMIM
609702
Clinvar variants
Variants in PSMG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PSMG2 were changed from CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy to Proteasome-associated autoinflammatory syndrome 4, MIM# 619183; CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy

5 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psmg2 has been classified as Red List (Low Evidence).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PSMG2 was added gene: PSMG2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list Mode of inheritance for gene: PSMG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMG2 were set to 30664889 Phenotypes for gene: PSMG2 were set to CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy Review for gene: PSMG2 was set to RED