Aortopathy_Connective Tissue Disorders
Gene: COL1A1EnsemblGeneIds (GRCh38): ENSG00000108821
EnsemblGeneIds (GRCh37): ENSG00000108821
OMIM: 120150, Gene2Phenotype
COL1A1 is in 9 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 30071989; Classified as No Evidence for heritable thoracic aortic aneurysm and dissection by Clingen
COL1A1 is mostly associated with osteogenesis imperfecta however, substitutions of arginine by cysteine in the triple helical domain) have been reported in individuals w/classic EDS & aneurysm & dissection of large vessels (Gene reviews: https://www.ncbi.nlm.nih.gov/books/NBK1244/ , https://www.ncbi.nlm.nih.gov/books/NBK1494/)
PMID: 28981071; (a systemic literature review) reports n=12 for classical EDS
PMID: 32091183; 5 patients with arthrochalasia EDSCreated: 25 Jun 2020, 3:04 a.m. | Last Modified: 25 Jun 2020, 3:04 a.m.
Panel Version: 0.26
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Classical Ehlers-Danlos Syndrome; arthrochalasia Ehlers-Danlos Syndrome
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM# 130060
- OMIM
- 120150
- Clinvar variants
- Variants in COL1A1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col1a1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: COL1A1 were changed from to Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM# 130060
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: COL1A1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: COL1A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: COL1A1 was added gene: COL1A1 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL1A1 was set to Unknown