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Mendeliome

Gene: COL11A2

Green List (high evidence)

COL11A2 (collagen type XI alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000204248
EnsemblGeneIds (GRCh37): ENSG00000204248
OMIM: 120290, Gene2Phenotype
COL11A2 is in 14 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

For stickler:
Variants in this gene cause a range of phenotypes. Although not listed in OMIM, several unrelated families reported with Stickler syndrome type III, which can often lack ocular involvement (i.e. predominant deafness and arthropathy).

For deafness:
The gene-disease association with Otospondylomegaepiphyseal dysplasia is well established (DEFINITIVE) by ClinGen, and deafness is part fo the phenotype, both with mono-allelic and bi-allelic variants. There are also a number of reports of mono-allelic and bi-allelic variants associated with isolated deafness (PMIDs: 10581026;25633957;16033917), associated rated as MODERATE by ClinGen.

Fibrochondrogeneis and Otospondylomegaepiphyseal dysplasia are well established
Created: 3 May 2022, 11:19 p.m. | Last Modified: 3 May 2022, 11:19 p.m.
Panel Version: 0.13645

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Stickler syndrome type 3; Deafness, autosomal dominant 13 MIM#601868; Deafness, autosomal recessive 53 MIM#609706; Fibrochondrogenesis 2 MIM#614524; Otospondylomegaepiphyseal dysplasia, autosomal dominant MIM#184840; Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150

Publications

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Stickler syndrome type 3
  • Deafness, autosomal dominant 13 MIM#601868
  • Deafness, autosomal recessive 53 MIM#609706
  • Fibrochondrogenesis 2 MIM#614524
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant MIM#184840
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150
OMIM
120290
Clinvar variants
Variants in COL11A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: col11a2 has been classified as Green List (High Evidence).

3 May 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: COL11A2 were changed from to Stickler syndrome type 3; Deafness, autosomal dominant 13 MIM#601868; Deafness, autosomal recessive 53 MIM#609706; Fibrochondrogenesis 2 MIM#614524; Otospondylomegaepiphyseal dysplasia, autosomal dominant MIM#184840; Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150

3 May 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: COL11A2 were set to

3 May 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: COL11A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL11A2 was added gene: COL11A2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL11A2 was set to Unknown