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  3. COL11A1
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Aortopathy_Connective Tissue Disorders

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Stickler syndrome is a multi-system connective tissue disorder. Monoallelic loss of function variants in COL11A1 are a well-established cause of Stickler syndrome.
Sources: Literature
Created: 11 Aug 2021, 6:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Stickler syndrome, type II MIM#604841

Publications

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

Created: 11 Aug 2021, 6:32 a.m.

Panel version: 1.53

History Filter Activity

18 Jul 2022, 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).

11 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Aug 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: COL11A1 was added gene: COL11A1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL11A1 were set to 8872475; 20301479 Phenotypes for gene: COL11A1 were set to Stickler syndrome, type II MIM#604841 Review for gene: COL11A1 was set to GREEN gene: COL11A1 was marked as current diagnostic