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  3. COL5A2
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Aortopathy_Connective Tissue Disorders

Gene: COL5A2

Green List (high evidence)
COL5A2 (collagen type V alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000204262
EnsemblGeneIds (GRCh37): ENSG00000204262
OMIM: 120190, Gene2Phenotype
COL5A2 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Ehlers-Danlos syndrome, classic type, 2, MIM#130010

Created: 29 Dec 2020, 2:20 a.m.
Last Modified: 29 Dec 2020, 2:20 a.m.
Panel version: 1.3

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-known association with classic Ehlers-Danlos syndrome e.g. PMID 22696272. Variants in this gene make up ~14% of cases. Reviewed in PMID 20847697 and GeneReviews (Available from: https://www.ncbi.nlm.nih.gov/books/NBK1244/)
Sources: Literature
Created: 25 Jun 2020, 6:50 a.m. | Last Modified: 25 Jun 2020, 6:52 a.m.
Panel Version: 0.30

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Ehlers-Danlos syndrome, classic type, 2, MIM#120190

Publications

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

Created: 25 Jun 2020, 6:50 a.m.
Last Modified: 25 Jun 2020, 6:52 a.m.
Panel version: 0.30

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 2, MIM#130010
OMIM
120190
Clinvar variants
Variants in COL5A2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

29 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL5A2 were changed from Ehlers-Danlos syndrome, classic type, 2, MIM#120190 to Ehlers-Danlos syndrome, classic type, 2, MIM#130010

25 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col5a2 has been classified as Green List (High Evidence).

25 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COL5A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

25 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col5a2 has been classified as Green List (High Evidence).

25 Jun 2020, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: COL5A2 was added gene: COL5A2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL5A2 were set to 20847697; 22696272 Phenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome, classic type, 2, MIM#120190 Penetrance for gene: COL5A2 were set to unknown Review for gene: COL5A2 was set to GREEN gene: COL5A2 was marked as current diagnostic