Cobblestone Malformations
Gene: COL3A1EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 17 panels
1 review
Lauren Akesson (Royal Melbourne Hospital)
Well established phenotype with polymicrogyria with biallelic variants in COL3A1. In the OMIM description, 6 individuals from 5 unrelated families are described (PMID: 28742248; 19455184; 25205403).Created: 28 Apr 2020, 1:51 a.m. | Last Modified: 28 Apr 2020, 1:51 a.m.
Panel Version: 0.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Brain Malformations Flagship
- Phenotypes
-
- Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, MIM # 618343
- OMIM
- 120180
- Clinvar variants
- Variants in COL3A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- Additional findings_Adult
- Cobblestone Malformations
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Vasculitis
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Pneumothorax
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Aortopathy_Connective Tissue Disorders
- Polymicrogyria and Schizencephaly
- Cerebral vascular malformations
- Spontaneous coronary artery dissection
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col3a1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: COL3A1 were changed from to Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, MIM # 618343
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: COL3A1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: COL3A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: COL3A1 was added gene: COL3A1 was added to Cobblestone malformations_AustralianGenomics. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: COL3A1 was set to Unknown