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  3. PSMG2
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Brain Calcification

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

Yetong Chen (University of Melbourne)

Red List (low evidence)

There is limited evidence supporting the causal role of PSMG2 in brain calcification.
PMID 30664889 reports a patient with heterozygous PSMG2 variants (c.666_667delGT, p.Y223Sfs*2 and c.675 T>G, p.N225K) who had bilateral basal ganglia calcifications.
Sources: Expert list
Created: 24 Apr 2023, 12:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Proteasome-associated autoinflammatory syndrome 4, MIM# 619183

Publications

Created: 24 Apr 2023, 12:25 p.m.

Panel version: 1.51

Details

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

History Filter Activity

2 May 2023, 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).

24 Apr 2023, Gel status: 0

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

Yetong Chen (University of Melbourne)

gene: PSMG2 was added gene: PSMG2 was added to Brain Calcification. 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 Proteasome-associated autoinflammatory syndrome 4, MIM# 619183 Review for gene: PSMG2 was set to RED