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Skeletal dysplasia

Gene: COL11A1

Green List (high evidence)

COL11A1 (collagen type XI alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000060718
EnsemblGeneIds (GRCh37): ENSG00000060718
OMIM: 120280, Gene2Phenotype
COL11A1 is in 16 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Fibrochondrogenesis - biallelic null or chet null+missense which affect constitutively expressed exons. Carrier parents had mild clinical features such as myopia or hearing loss and were not considered to have Stickler.
Marshall syndrome (MIM#154780), AD - reports of AR as well
Stickler syndrome, type II (MIM#604841), AD - report of AR as well, almost all exclusive to variants affecting exon 9
?Deafness, autosomal dominant 37 - more reports in recent papers

Penetrance is full BUT expression highly variable in Stickler syndrome often resulting in atypical phenotype

LoF and suggested DN. Dominant negative has been suggested for Gly-X-Y variants (OMIM).
Created: 1 Sep 2020, 12:48 a.m. | Last Modified: 1 Sep 2020, 12:48 a.m.
Panel Version: 0.4059

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Fibrochondrogenesis 1 (MIM#228520); Marshall syndrome (MIM#154780); Stickler syndrome, type II (MIM#604841); {Lumbar disc herniation, susceptibility to}, (MIM#603932); ?Deafness, autosomal dominant 37, (MIM#618533)

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Stickler syndrome, type II 604841
  • Fibrochondrogenesis 1 228520
  • Marshall syndrome 154780
OMIM
120280
Clinvar variants
Variants in COL11A1
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: COL11A1 was added gene: COL11A1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Eligibility statement prior genetic testing Mode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL11A1 were set to Stickler syndrome, type II 604841; Fibrochondrogenesis 1 228520; Marshall syndrome 154780