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Cataracts

Gene: PSMC3

No list

PSMC3 (proteasome 26S subunit, ATPase 3)
EnsemblGeneIds (GRCh38): ENSG00000165916
EnsemblGeneIds (GRCh37): ENSG00000165916
OMIM: 186852, Gene2Phenotype
PSMC3 is in 1 panel

1 review

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

Phenotypes
Deafness; cataract

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Deafness
  • cataract
OMIM
186852
Clinvar variants
Variants in PSMC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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