Syndromic Retinopathy

Gene: COL11A1

Green List (high evidence)

Fibrochondrogenesis - biallelic null or chet null+missense which affect constitutively expressed exons. Carrier parents had mild clinical features such as myopia or hearing loss and were not considered to have Stickler.
Marshall syndrome (MIM#154780), AD - reports of AR as well
Stickler syndrome, type II (MIM#604841), AD - report of AR as well, almost all exclusive to variants affecting exon 9
?Deafness, autosomal dominant 37 - more reports in recent papers

Penetrance is full BUT expression highly variable in Stickler syndrome often resulting in atypical phenotype

LoF and suggested DN. Dominant negative has been suggested for Gly-X-Y variants (OMIM).

Created: 1 Sep 2020, 12:48 a.m. | Last Modified: 1 Sep 2020, 12:48 a.m.

Panel Version: 0.4059

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Fibrochondrogenesis 1 (MIM#228520); Marshall syndrome (MIM#154780); Stickler syndrome, type II (MIM#604841); {Lumbar disc herniation, susceptibility to}, (MIM#603932); ?Deafness, autosomal dominant 37, (MIM#618533)

Publications

• PMID 25073711
• 30245514
• 32427345
• 27081569
• 21035103

Mode of pathogenicity
Other