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Skeletal dysplasia

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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
Phenotypes
  • Fibrochondrogenesis 2 614524?
  • Otospondylomegaepiphyseal dysplasia 215150
  • Fibrochondrogenesis 2 614524
  • Weissenbacher-Zweymuller syndrome 277610
  • Stickler syndrome, type III 184840
OMIM
120290
Clinvar variants
Variants in COL11A2
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL11A2 was added gene: COL11A2 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: COL11A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL11A2 were set to Fibrochondrogenesis 2 614524?; Otospondylomegaepiphyseal dysplasia 215150; Fibrochondrogenesis 2 614524; Weissenbacher-Zweymuller syndrome 277610; Stickler syndrome, type III 184840