Ehlers Danlos syndromes
Gene: COL1A2
One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229). Monoallelic variants leading to (partial) loss of exon 6 are a well-established cause arthrochalasia type EDS.
Biallelic variant that lead to loss-of-function/absence of pro a2(I) collagen chains cause cardiac-valvular type EDS. 6 cases in 5 unrelated families have been reported with homozygous and compound heterozygous variants (PMID: 30821104).
Sources: Expert listCreated: 1 Jul 2020, 7:36 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, arthrochalasia type, 2 MIM#617821; Ehlers-Danlos syndrome, cardiac valvular type MIM#225320
Publications
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Ehlers Danlos syndrome, cardiac valvular form (AR), 225320; Arthrochalasia EDS; Cardiac-valvular EDS; Ehlers Danlos syndrome, type VIIB (AD), 130060 for gene: COL1A2
gene: COL1A2 was added gene: COL1A2 was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL1A2 were set to Ehlers Danlos syndrome, cardiac valvular form (AR), 225320; Arthrochalasia EDS; Cardiac-valvular EDS; Ehlers Danlos syndrome, type VIIB (AD), 130060