Cerebral vascular malformations
Gene: COL3A1

COL3A1 (collagen type III alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 17 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Biallelic variants cause a more severe phenotype of vascular EDS with individuals presenting with brain anomalies.

4 unrelated families reported with biallelic variants (compound het or homozygous) in COL3A1 and presented with abnormal cerebral findings on their brain MRI.
Created: 18 Nov 2024, 10:50 p.m. | Last Modified: 18 Nov 2024, 10:50 p.m.

Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
polymicrogyria with or without vascular-type Ehlers-Danlos syndrome MONDO:0032688

Publications

Created: 18 Nov 2024, 10:50 p.m.
Last Modified: 18 Nov 2024, 10:50 p.m.
Panel version: 0.39

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Genomics England PanelApp
Expert Review Green

Phenotypes

Ehlers-Danlos syndrome, type IV 130050

OMIM

120180

Clinvar variants

Variants in COL3A1

Penetrance

None

Panels with this gene

History Filter Activity

18 May 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL3A1 was added gene: COL3A1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, type IV 130050

Cerebral vascular malformations Gene: COL3A1