Stroke

Gene: COL4A2

Green List (high evidence)

COL4A2 (collagen type IV alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000134871
EnsemblGeneIds (GRCh37): ENSG00000134871
OMIM: 120090, Gene2Phenotype
COL4A2 is in 14 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

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 association
Created: 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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 6 cases reported with intracerebral bleeding/stroke, and a mouse model with stroke.
Sources: Literature
Created: 11 May 2020, 1:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

History Filter Activity

11 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: col4a2 has been classified as Green List (High Evidence).

11 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: col4a2 has been classified as Green List (High Evidence).

11 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

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