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  3. PSMC3
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Cataract

Gene: PSMC3

Amber List (moderate evidence)
PSMC3 (proteasome 26S subunit, ATPase 3)
EnsemblGeneIds (GRCh38): ENSG00000165916
EnsemblGeneIds (GRCh37): ENSG00000165916
OMIM: 186852, Gene2Phenotype
PSMC3 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model.
Sources: Literature
Created: 20 Aug 2020, 2:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354

Publications

Created: 20 Aug 2020, 2:43 a.m.

Panel version: 0.277

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
OMIM
186852
Clinvar variants
Variants in PSMC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jun 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PSMC3 were changed from Deafness; cataract to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354

20 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psmc3 has been classified as Amber List (Moderate Evidence).

20 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psmc3 has been classified as Amber List (Moderate Evidence).

20 Aug 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: PSMC3 was added gene: PSMC3 was added to Cataract. Sources: Literature Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMC3 were set to 32500975 Phenotypes for gene: PSMC3 were set to Deafness; cataract Review for gene: PSMC3 was set to AMBER