Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hearing loss

Gene: COL9A2

Red List (low evidence)

COL9A2 (collagen type IX alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000049089
EnsemblGeneIds (GRCh37): ENSG00000049089
OMIM: 120260, Gene2Phenotype
COL9A2 is in 16 panels

1 review

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

Details

Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epiphyseal dysplasia, multiple, 2, 600204{Intervertebral disc disease, susceptibility to}, 603932Stickler syndrome, type V, 614284
  • Epiphysealdysplasia,multiple,2,600204{Intervertebraldiscdisease,susceptibilityto},603932Sticklersyndrome,typeV,614284
OMIM
120260
Clinvar variants
Variants in COL9A2
Penetrance
Complete
Panels with this gene

History Filter Activity

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