Aortopathy_Connective Tissue Disorders
Gene: COL5A1
Multifocal fibromuscular dysplasia (FMDMF) is characterized histologically by medial fibroplasia and angiographically by multiple arterial stenoses with intervening mural dilations. Arterial tortuosity, macroaneurysms, dissections, and rupture may occur.
4 unrelated individuals reported, but all had the same variant, p.Gly514Ser, and haplotype analysis was consistent with founder effect. Further rare missense variants were identified in a cohort, although limited information available.Created: 19 May 2021, 11:40 p.m. | Last Modified: 19 May 2021, 11:40 p.m.
Panel Version: 1.30
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fibromuscular dysplasia, multifocal, MIM# 619329
Publications
PMID: 30071989; Classified as 'No Evidence' by Clingen for heritable thoracic aortic aneurysm and dissection
GeneReviews: 75-78% of classical EDS is caused by pathogenic variants in COL5A1. Haploinsufficiency is the more common disease mechanism whoeever, missense variants in the triple helical domain of the α1(V) or α2(V) chains are likely to have dominant-negative activity.
(https://www.ncbi.nlm.nih.gov/books/NBK1244/)Created: 25 Jun 2020, 3:16 a.m. | Last Modified: 25 Jun 2020, 3:16 a.m.
Panel Version: 0.26
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Heritable Thoracic Aortic Aneurysm and Dissection; Classic Ehlers-Danlos Syndrome (MIM# 130000)
Publications
Phenotypes for gene: COL5A1 were changed from Ehlers-Danlos syndrome, classic type, 1, MIM# 130000 to Ehlers-Danlos syndrome, classic type, 1, MIM# 130000; Fibromuscular dysplasia, multifocal, MIM# 619329
Publications for gene: COL5A1 were set to 30071989
Gene: col5a1 has been classified as Green List (High Evidence).
Phenotypes for gene: COL5A1 were changed from to Ehlers-Danlos syndrome, classic type, 1, MIM# 130000
Publications for gene: COL5A1 were set to
Mode of inheritance for gene: COL5A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: COL5A1 was added gene: COL5A1 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL5A1 was set to Unknown