Stroke
Gene: COL4A2
COL4A2 (collagen type IV alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000134871
EnsemblGeneIds (GRCh37): ENSG00000134871
OMIM: 120090, Gene2Phenotype
COL4A2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000134871
EnsemblGeneIds (GRCh37): ENSG00000134871
OMIM: 120090, Gene2Phenotype
COL4A2 is in 14 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- OMIM
- 120090
- Clinvar variants
- Variants in COL4A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mendeliome
- Brain Calcification
- Cataract
- Polymicrogyria and Schizencephaly
- Intellectual disability syndromic and non-syndromic
- Cerebral vascular malformations
- Genetic Epilepsy
- Cerebral Palsy
- Muscular dystrophy and myopathy_Paediatric
- Stroke
- Leukodystrophy - adult onset
- Haematuria_Alport
- Early-onset Dementia
- Fetal anomalies
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