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Hearing loss

Gene: COL9A3

Amber List (moderate evidence)

COL9A3 (collagen type IX alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000092758
EnsemblGeneIds (GRCh37): ENSG00000092758
OMIM: 120270, Gene2Phenotype
COL9A3 is in 16 panels

3 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Promoting this gene from red to amber. 2 cases of a Stickler syndrome phenotype reported, which includes hearing loss.
Created: 20 Sep 2020, 7:56 a.m. | Last Modified: 20 Sep 2020, 7:56 a.m.
Panel Version: 2.85
Not associated with any relevant phentoype in OMIM.

PMID: 31090205 - Nixon et al 2019 - report one consanguineous family where the 2 probands with Stickler syndrome were identified as having a a novel homozygous variant in COL9A3: c.1411C>T, p.(Arg471Ter). The parents were heterozygous. Both probands had high‐frequency sensorineural hearing loss. One had severe arthropathy in shoulders and hip and had undergone spinal scoliosis surgery. The variant was present in gnomAD at a frequency of 3/270000.

PMID: 24273071 - Faletra et al 2014 - report a Moroccan family with first‐cousins healthy parents and 3 affected siblings with hearing loss, visual defects, bone abnormalities and ID. Based on the regions of homology shared by all 3 siblings, DNA from COL9A3, NEUROD2, NLGN1, and SLC4A10 were analysed and a homozygous frameshift mutation was found in COL9A3 the 3 siblings: c.1176_1198del (NP_001844.3: p.Gln393Cysfs*25). The parents were heterozygous for this variant. The intellectual disability in the patients is not explained by the COL9A3 variant.
Created: 20 Sep 2020, 7:53 a.m. | Last Modified: 20 Sep 2020, 7:53 a.m.
Panel Version: 2.81

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stickler syndrome

Publications

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

20 Sep 2020, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: COL9A3.

20 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: col9a3 has been classified as Amber List (Moderate Evidence).

20 Sep 2020, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: COL9A3 were changed from to Stickler syndrome

20 Sep 2020, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: COL9A3 were set to

20 Sep 2020, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: COL9A3 was changed from to BIALLELIC, autosomal or pseudoautosomal

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