Monogenic hearing loss

Gene: COL9A2

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 1:19 p.m. | Last Modified: 3 Mar 2022, 1:19 p.m.

Panel Version: 2.221

Comment on mode of inheritance: 3 reported cases are all homozygous

Created: 20 Sep 2020, 7:16 a.m. | Last Modified: 20 Sep 2020, 7:16 a.m.

Panel Version: 2.79

Comment on list classification: Changing rating from red to amber, but sufficient cases to rate green following GMS review of appropriateness of this gene for a non-syndromic hearing loss panel.

Created: 20 Sep 2020, 7:15 a.m. | Last Modified: 20 Sep 2020, 7:15 a.m.

Panel Version: 2.78

Provisional association with ?Stickler syndrome, type V #614284 (AR) in OMIM.

PMID: 21671392 - Baker et al 2011 - describe a 5 generation consanguineous of Asian indian origin with autosomal recessive Stickler syndrome. The initial 9 year old proband has severe myopia, vitreous abnormalities, and severe lattice degeneration, and was found to have mild to moderate sensorineural hearing loss in a school-age hearing screen. A second child (18 months), failed his newborn hearing screen and has mild to moderate sensorineural hearing loss. He has also been diagnosed with high myopia. COL9A1, COL9A2, and COL9A3 were screened for variants. A homozygous c.843_c.846 + 4del8 in the COL9A2 gene was detected in both children.

PMID: 31090205 - Nixon et al 2019 - report 2 families with consanguineous parents, with children with Stickler syndrome and homozygous variants in COL9A2. The three probands show sensorineural hearing loss (SNHL) and high myopia.

Created: 20 Sep 2020, 7:14 a.m. | Last Modified: 20 Sep 2020, 7:14 a.m.

Panel Version: 2.77

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Stickler syndrome, type V, 614284

Publications

• 21671392
• 31090205

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#600204:Epiphyseal dysplasia, multiple, 2[Short stature, mild; Flattened, irregular epiphysesVarus/valgus knee deformityKnee osteoarthritis; Mildly short hands]; #603932:{Intervertebral disc disease, susceptibility to}; #614284:?Stickler syndrome, type V[Short stature in childhoodAdult height, average; Hearing loss, sensorineural, mild to moderate; High myopiaVitreoretinal degenerationRetinal detachment]

Publications

• PMID:10364514
• 10411504
• 12244547
• 15633184
• 20358595
• 20686772
• 21671392
• 3238439
• 7789974
• 7829066
• 8454052
• 8528240