Stroke
Gene: COL4A2
For CP:
7 individuals in CP cohort have been reported with mono-allelic COL4A2 variants. Phenotypic overlap: Spastic Triplegia, ID (no language), porencephaly and seizures.
2 siblings reported with bi-allelic variants; Spastic Cerebral Palsy with ID and Epilepsy.
For brain small vessel disease:
Well established gene-disease associationCreated: 4 May 2022, 12:06 a.m. | Last Modified: 4 May 2022, 12:06 a.m.
Panel Version: 0.13664
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2 MIM# 614483
Publications
Variants in this GENE are reported as part of current diagnostic practice
At least 6 cases reported with intracerebral bleeding/stroke, and a mouse model with stroke.
Sources: LiteratureCreated: 11 May 2020, 1:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Gene: col4a2 has been classified as Green List (High Evidence).
Gene: col4a2 has been classified as Green List (High Evidence).
gene: COL4A2 was added gene: COL4A2 was added to Stroke. Sources: Literature Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A2 were set to 22209247; 30356112; 27794444 Review for gene: COL4A2 was set to GREEN