Ehlers Danlos syndromes

Gene: COL1A2

Green List (high evidence)

COL1A2 (collagen type I alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000164692
EnsemblGeneIds (GRCh37): ENSG00000164692
OMIM: 120160, Gene2Phenotype
COL1A2 is in 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 list
Created: 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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • International EDS Consortium
  • Expert Review Green
Phenotypes
  • Ehlers Danlos syndrome, cardiac valvular form (AR), 225320
  • Arthrochalasia EDS
  • Cardiac-valvular EDS
  • Ehlers Danlos syndrome, type VIIB (AD), 130060
OMIM
120160
Clinvar variants
Variants in COL1A2
Penetrance
None
Panels with this gene

History Filter Activity

30 Jun 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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

30 Jun 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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