Aortopathy_Connective Tissue Disorders
Gene: COL5A2
Phenotypes
Ehlers-Danlos syndrome, classic type, 2, MIM#130010
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: LiteratureCreated: 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
Phenotypes for gene: COL5A2 were changed from Ehlers-Danlos syndrome, classic type, 2, MIM#120190 to Ehlers-Danlos syndrome, classic type, 2, MIM#130010
Gene: col5a2 has been classified as Green List (High Evidence).
Mode of inheritance for gene: COL5A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: col5a2 has been classified as Green List (High Evidence).
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