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Bilateral congenital or childhood onset cataracts

Gene: PSMC3

Amber List (moderate evidence)

PSMC3 (proteasome 26S subunit, ATPase 3)
EnsemblGeneIds (GRCh38): ENSG00000165916
EnsemblGeneIds (GRCh37): ENSG00000165916
OMIM: 186852, Gene2Phenotype
PSMC3 is in 6 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is not enough evidence to support a gene-disease association; therefore, this gene has been given an Amber rating.
Created: 9 Dec 2020, 4:24 p.m. | Last Modified: 9 Dec 2020, 4:24 p.m.
Panel Version: 2.19

Zornitza Stark (Australian Genomics)

I don't know

Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Gene-disease association is supported by an animal model.
Sources: Literature
Created: 7 Sep 2020, 8:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Deafness; cataract



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Deafness
  • cataract
Clinvar variants
Variants in PSMC3
Panels with this gene

History Filter Activity

9 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

7 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PSMC3 was added gene: PSMC3 was added to Cataracts. 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