Stickler syndrome
Gene: COL9A3
The association between bi-allelic variants and Stickler syndrome is established. However, note mono-allelic variants have been associated with isolated deafness and now with retinal phenotypes which overlap with Stickler syndrome.Created: 12 Jun 2021, 2:28 a.m. | Last Modified: 12 Jun 2021, 2:28 a.m.
Panel Version: 2.16
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, AR; Deafness, AD; Peripheral vitreoretinal degeneration and retinal detachment, AD
Publications
Comment on mode of inheritance: As there are currently only 2 unrelated cases of autosomal dominant COL9A3 variant associated with peripheral vitreoretinal degeneration and retinal detachment, the MOI will be kept as "Biallelic" until more evidence is available.Created: 15 Jun 2021, 2:35 p.m. | Last Modified: 15 Jun 2021, 2:43 p.m.
Panel Version: 2.18
Comment on phenotypes: Previous phenotypes:
Stickler syndrome type VI, Mutiple Epiphyseal DysplasiaCreated: 3 Mar 2021, 4:28 p.m. | Last Modified: 3 Mar 2021, 4:28 p.m.
Panel Version: 2.12
PMID:30450842 reports a second case of autosomal recessive Stickler syndrome. The proband was a single affected individual from a consanguineous family who was homozygous for a frameshift variant in COL9A3 which was 'not found in public SNP databases'.Created: 19 Feb 2019, 11:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Comment on list classification: Unpublished result. Not listed as Stickler syndrome gene in OMIM or DDG2P, insufficient published cases in literatureCreated: 17 Dec 2015, 1:11 p.m.
This gene encodes the third alpha chain of the type IX collagen molecule, the other two chains being encoded by COL9A1 and COL9A2 and therefore should be rated as green even though there are not many examples in the literatureCreated: 16 Oct 2015, 10:48 a.m.
We have unpublished confirmation of a homozygous loss of function mutation seen in COL9A3 in a patient with Stickler syndromeCreated: 16 Oct 2015, 8:29 a.m.
Phenotypes
Stickler syndrome VI; Mutiple Epiphyseal Dysplasia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: COL9A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL9A3 were set to 24273071 and unpublished observation; 30450842
Phenotypes for gene: COL9A3 were changed from Stickler syndrome type VI; Mutiple Epiphyseal Dysplasia to Stickler syndrome, MONDO:0019354
Gene: col9a3 has been classified as Green List (High Evidence).
Publications for gene: COL9A3 were set to 24273071 and unpublished observation
Phenotypes for COL9A3 were set to Stickler syndrome type VI; Mutiple Epiphyseal Dysplasia
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
COL9A3 was added to Stickler syndromepanel. Sources: Expert Review