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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 17 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least three families reported, SNHL a feature; Stickler syndrome can be difficult to diagnose clinically.
Created: 29 Jan 2020, 12:33 a.m. | Last Modified: 29 Jan 2020, 12:33 a.m.
Panel Version: 2.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stickler syndrome, type IV, MIM#614134

Variants in this GENE are reported as part of current diagnostic practice

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