Aortopathy_Connective Tissue Disorders
Gene: COL1A2EnsemblGeneIds (GRCh38): ENSG00000164692
EnsemblGeneIds (GRCh37): ENSG00000164692
OMIM: 120160, Gene2Phenotype
COL1A2 is in 10 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Ehlers-Danlos syndrome, arthrochalasia type, 2 MIM#617821
- Ehlers-Danlos syndrome, cardiac valvular type MIM#225320
- OMIM
- 120160
- Clinvar variants
- Variants in COL1A2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: col1a2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: col1a2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: COL1A2 was added gene: COL1A2 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL1A2 were set to 28306229; 32091183; 2993307; 30821104 Phenotypes for gene: COL1A2 were set to Ehlers-Danlos syndrome, arthrochalasia type, 2 MIM#617821; Ehlers-Danlos syndrome, cardiac valvular type MIM#225320 Review for gene: COL1A2 was set to GREEN gene: COL1A2 was marked as current diagnostic