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  2. Bleeding and Platelet Disorders
  3. COL5A2
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Bleeding and Platelet Disorders

Gene: COL5A2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Easily bruisability only.
Created: 11 Aug 2020, 10:15 a.m. | Last Modified: 11 Aug 2020, 10:15 a.m.
Panel Version: 0.56

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 11 Aug 2020, 10:15 a.m.
Last Modified: 11 Aug 2020, 10:15 a.m.
Panel version: 0.56

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 2, MIM# 130010
OMIM
120190
Clinvar variants
Variants in COL5A2
Penetrance
None
Panels with this gene

History Filter Activity

11 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col5a2 has been classified as Amber List (Moderate Evidence).

11 Aug 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Aug 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col5a2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL5A2 was added gene: COL5A2 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL5A2 was set to Unknown