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Hearing loss

Gene: COL9A1

Amber List (moderate evidence)

COL9A1 (collagen type IX alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000112280
EnsemblGeneIds (GRCh37): ENSG00000112280
OMIM: 120210, Gene2Phenotype
COL9A1 is in 17 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changing rating from red to amber, but maybe appropriate for green rating following GMS review.
Created: 20 Sep 2020, 6:40 a.m. | Last Modified: 20 Sep 2020, 6:40 a.m.
Panel Version: 2.77
Associated with Stickler syndrome, type IV #614134 in OMIM. No inheritance given.

Summary: 1 Turkish and 1 unknown ethnicity family with R507X variants and 2 distantly related Moroccan families with R295X COL9A1 variants and Stickler syndrome. 2 cases of non-syndromic hearing loss (1 missense, 1 in-frame deletion of several exons).

PMID: 16909383 Van Camp et al 2006 - report a family of Moroccan origin with 4 children affected by Stickler syndrome and 6 unaffected children. The distantly related parents are unaffected. The 4 children showed symptoms characteristic of Stickler syndrome, including moderate-to-severe sensorineural hearing loss, moderate-to-high myopia with vitreoretinopathy, and epiphyseal dysplasia. Targeted analysis of COL9A1 resulted in the identification of a homozygous R295X variant in the four affected children. 4 unaffected children and the parents were heterozygous carriers. Two unaffected children did not carry the variant at all.

PMID: 21421862 - Nikopoulos et al 2011 - Report two consanguineous families with children with Stickler syndrome. One Turkish family has two affected sisters, the other Moroccan family has one affected boy. The Turkish girls were found to have a homozygous COL9A1 mutation (p.R507X) while the Moroccan boy had the same variant found in the Moroccan family published by Van Camp et al 2006 (p.R295X). Phenotypic features include myopia, cataracts, distinct vitreous changes, progressive chorioretinal degeneration, and exudative and rhegmatogenous retinal detachments. All three had sensorineural hearing loss and epiphyseal dysplasia. Haplotype analysis of the Moroccan family showed they shared the identical disease haplotype in the 2-cM area encompassing COL9A1 as the previously described Moroccan family, indicating a possible relationship.

PMID: 23967202 - Miyagawa et al 2013 - report one case of a missense variant (NM_001851.3, c.2395G>C, p.G799R)in COL9A1 in a patient with sporadic early onset hearing loss, identified by targeted exome sequencing. Detailed phenotype information not available.

PMID: 31315069 - Hofrichter et al 2019 - report 2 patients with non-syndromic HL from an Iranian family. Both siblings were homozygous for a 44.6 kb in-frame deletion spanning exons 6 to 33 of COL9A1. The parents were heterozygous for the deletion. The initially presented non-syndromic HL at the age of 28 years, but clinical follow up has not been undertaken.

PMID: 31090205 - Nixon et al 2019 - report 1 case of a 6 year old child with a homozygous nonsense variant in COL9A1 (c.1519C>T, p.(Arg507Ter)) and a diagnosis of Stickler syndrome. This variant has been described previously (Nikopoulos et al., 2011). The child had high‐frequency sensorineural hearing loss.
Created: 20 Sep 2020, 6:37 a.m. | Last Modified: 20 Sep 2020, 7:27 a.m.
Panel Version: 2.81

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stickler syndrome, type IV, 614134; hearing loss

Publications

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

20 Sep 2020, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: COL9A1.

20 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: col9a1 has been classified as Amber List (Moderate Evidence).

20 Sep 2020, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: COL9A1 were changed from Epiphyseal dysplasia, multiple, 6, 614135Stickler syndrome, type IV, 614134; Epiphysealdysplasia,multiple,6,614135Sticklersyndrome,typeIV,614134 to Stickler syndrome, type IV, 614134; hearing loss

20 Sep 2020, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: COL9A1 were set to

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