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
Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Gene-disease association is supported by an animal model.
Created: 7 Sep 2020, 8:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: psmc3 has been classified as Amber List (Moderate Evidence).
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