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  3. COL2A1
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Aortopathy_Connective Tissue Disorders

Gene: COL2A1

Green List (high evidence)
COL2A1 (collagen type II alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 18 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 COL2A1 are the most common cause of Stickler syndrome.
Sources: Other
Created: 11 Aug 2021, 6:20 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Stickler syndrome, type I MIM#108300

Publications

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

Created: 11 Aug 2021, 6:20 a.m.

Panel version: 1.51

History Filter Activity

11 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: col2a1 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: col2a1 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: COL2A1 was added gene: COL2A1 was added to Aortopathy_Connective Tissue Disorders. Sources: Other Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL2A1 were set to 1677770; 20301479 Phenotypes for gene: COL2A1 were set to Stickler syndrome, type I MIM#108300 Review for gene: COL2A1 was set to GREEN gene: COL2A1 was marked as current diagnostic