Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Hereditary Neuropathy - complex v0.112 PSMC3 Zornitza Stark Marked gene: PSMC3 as ready
Hereditary Neuropathy - complex v0.112 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.112 PSMC3 Zornitza Stark Classified gene: PSMC3 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.112 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.111 PSMC3 Zornitza Stark gene: PSMC3 was added
gene: PSMC3 was added to Hereditary Neuropathy - complex. 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, impaired intellectual development, and polyneuropathy, MIM#619354
Review for gene: PSMC3 was set to AMBER
Added comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model.
Sources: Literature