Skeletal dysplasia

Gene: PSMC3

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.

Created: 4 May 2024, 3:54 p.m. | Last Modified: 4 May 2024, 4:37 p.m.

Panel Version: 5.3

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: Literature

Created: 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

• 37256937