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Hearing loss

Gene: COL9A1

Red List (low evidence)

COL9A1 (collagen type IX alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000112280
EnsemblGeneIds (GRCh37): ENSG00000112280
OMIM: 120210, Gene2Phenotype
COL9A1 is in 16 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

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

Phenotypes
#614134:Stickler syndrome, type IV[<omim version=1.0><clinicalSynopsisList>]; #614135:?Epiphyseal dysplasia, multiple, 6[Multiple epiphyseal dysplasiaEarly onset osteoarthritis; Endplate irregularities (thoracic-lumbar vertebrae)Schmorl&apos; s nodesAnterior osteophytes (thoracic-lumbar vertebrae); Hip arthralgia; Knee arthralgiaIrregular epiphyses (knee)]

Publications

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL9A1 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)

COL9A1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert