Cerebral vascular malformations
Gene: COL4A2
22209247 - COL4A1 form heterotrimers with COL4A2 which results in the cerebral vascular phenotype. No pathogenic variants in COL4A2 have been reported in individuals with a cerebral vascular phenotype.
COL4A2 is typically associated with haemorrhagic strokes with no evidence of any cerebral vascular malformations.Created: 25 Nov 2024, 3:15 a.m. | Last Modified: 2 Dec 2024, 1:55 a.m.
Panel Version: 0.116
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stroke, hemorrhagic MIM#614519
Publications
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
Gene: col4a2 has been classified as Red List (Low Evidence).
Phenotypes for gene: COL4A2 were changed from {Hemorrhage, intracerebral, susceptibility to}, 614519; {Hemorrhage, intracerebral, susceptibility to} to Stroke, hemorrhagic MIM#614519
Publications for gene: COL4A2 were set to
Mode of inheritance for gene: COL4A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: COL4A2 was added gene: COL4A2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: COL4A2 was set to Phenotypes for gene: COL4A2 were set to {Hemorrhage, intracerebral, susceptibility to}, 614519; {Hemorrhage, intracerebral, susceptibility to}