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  2. Deafness_Isolated
  3. COL11A1
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Deafness_Isolated

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. SNHL is a feature.
Created: 28 Sep 2020, 8:32 p.m. | Last Modified: 28 Sep 2020, 8:32 p.m.
Panel Version: 0.433

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Stickler syndrome, type II, MIM# 604841; Marshall syndrome, MIM# 154780

Created: 28 Sep 2020, 8:32 p.m.
Last Modified: 28 Sep 2020, 8:32 p.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.433

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Stickler syndrome, type II, MIM# 604841
  • Marshall syndrome, MIM# 154780
OMIM
120280
Clinvar variants
Variants in COL11A1
Penetrance
None
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col11a1 has been classified as Green List (High Evidence).

3 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL11A1 were changed from Stickler syndrome to Stickler syndrome, type II, MIM# 604841; Marshall syndrome, MIM# 154780

21 Jul 2020, 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 DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL11A1 were set to Stickler syndrome