Skeletal dysplasia

Gene: COL11A2

Green List (high evidence)

For stickler:
Variants in this gene cause a range of phenotypes. Although not listed in OMIM, several unrelated families reported with Stickler syndrome type III, which can often lack ocular involvement (i.e. predominant deafness and arthropathy).

For deafness:
The gene-disease association with Otospondylomegaepiphyseal dysplasia is well established (DEFINITIVE) by ClinGen, and deafness is part fo the phenotype, both with mono-allelic and bi-allelic variants. There are also a number of reports of mono-allelic and bi-allelic variants associated with isolated deafness (PMIDs: 10581026;25633957;16033917), associated rated as MODERATE by ClinGen.

Fibrochondrogeneis and Otospondylomegaepiphyseal dysplasia are well established

Created: 3 May 2022, 11:19 p.m. | Last Modified: 3 May 2022, 11:19 p.m.

Panel Version: 0.13645

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Stickler syndrome type 3; Deafness, autosomal dominant 13 MIM#601868; Deafness, autosomal recessive 53 MIM#609706; Fibrochondrogenesis 2 MIM#614524; Otospondylomegaepiphyseal dysplasia, autosomal dominant MIM#184840; Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150

Publications

• 10581026
• 25633957
• 16033917
• 25240749
• 22796475
• 20112039

Variants in this GENE are reported as part of current diagnostic practice