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

Hearing loss

Gene: COL9A3

Red List (low evidence)

COL9A3 (collagen type IX alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000092758
EnsemblGeneIds (GRCh37): ENSG00000092758
OMIM: 120270, Gene2Phenotype
COL9A3 is in 15 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#600969:Epiphyseal dysplasia, multiple, 3[Short stature, mild; Hip arthrosis; OsteoarthritisSmall, irregular epiphysesLate ossifying epiphyses; Normal handsShort metacarpals; Proximal muscle weakness; Mild variability in muscle fiber size; Mildly elevated creatine phosphokinase (CPK)]; #603932:{Intervertebral disc disease, susceptibility to}

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COL9A3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert