Polymicrogyria and Schizencephaly
Gene: COL3A1EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 17 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Well established phenotype with polymicrogyria with biallelic variants in COL3A1, at least 6 individuals from 5 unrelated families are described.
Sources: LiteratureCreated: 24 May 2022, 1:58 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343; Ehlers-Danlos syndrome, vascular type, MIM# 130050
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343
- Ehlers-Danlos syndrome, vascular type, MIM# 130050
- 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).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col3a1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: COL3A1 was added gene: COL3A1 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: COL3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL3A1 were set to 28742248; 19455184; 25205403 Phenotypes for gene: COL3A1 were set to Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343; Ehlers-Danlos syndrome, vascular type, MIM# 130050 Review for gene: COL3A1 was set to GREEN