Skeletal dysplasia
Gene: PSMC3
Comment on list classification: There is sufficient evidence available for the association of monoallelic PSMC3 variants with skeletal malformations and hence this gene can be promoted to green rating in the next GMS review.Created: 14 Dec 2023, 9:10 p.m. | Last Modified: 14 Dec 2023, 9:10 p.m.
Panel Version: 4.32
23 individuals with neurodevelopmental disorder were identified with 15 different de novo missense variants. Skeletal malformations were observed in 11/15 (73%) cases (scoliosis, acetabular dysplasia, brachymetatarsy).
Monoallelic variants in PSMC3 are not yet associated with any relevant phenotypes in OMIM or in Gene2Phenotype.
Sources: LiteratureCreated: 14 Dec 2023, 9:08 p.m. | Last Modified: 14 Dec 2023, 9:09 p.m.
Panel Version: 4.31
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
neurodevelopmental disorder, MONDO:0700092; scoliosis, MONDO:0005392; Acetabular dysplasia, HP:0008807; brachymetatarsy
Publications
Tag Q4_23_promote_green tag was added to gene: PSMC3.
Gene: psmc3 has been classified as Amber List (Moderate Evidence).
gene: PSMC3 was added gene: PSMC3 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: PSMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSMC3 were set to 37256937 Phenotypes for gene: PSMC3 were set to neurodevelopmental disorder, MONDO:0700092; scoliosis, MONDO:0005392; Acetabular dysplasia, HP:0008807; brachymetatarsy Review for gene: PSMC3 was set to GREEN