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Mendeliome

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established association. Genereviews PMID:20301422
Variants in this gene make up ~14% of cases.
Created: 4 May 2022, 12:42 a.m. | Last Modified: 4 May 2022, 12:42 a.m.
Panel Version: 0.13668

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

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

Details

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

History Filter Activity

4 May 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

4 May 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: COL5A2 were set to

4 May 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

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

4 May 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

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

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