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Hearing loss

Gene: COL9A2

Amber List (moderate evidence)

COL9A2 (collagen type IX alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000049089
EnsemblGeneIds (GRCh37): ENSG00000049089
OMIM: 120260, Gene2Phenotype
COL9A2 is in 17 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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

Jun Shen (Harvard Medical School)

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

History Filter Activity

20 Sep 2020, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: COL9A2.

20 Sep 2020, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: COL9A2 were changed from Epiphyseal dysplasia, multiple, 2, 600204{Intervertebral disc disease, susceptibility to}, 603932Stickler syndrome, type V, 614284; Epiphysealdysplasia,multiple,2,600204{Intervertebraldiscdisease,susceptibilityto},603932Sticklersyndrome,typeV,614284 to ?Stickler syndrome, type V, 614284

20 Sep 2020, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: COL9A2 were set to

20 Sep 2020, Gel status: 2

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: COL9A2 was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: col9a2 has been classified as Amber List (Moderate Evidence).

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL9A2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL9A2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert