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Cerebral vascular malformations v0.116 COL4A2 Sangavi Sivagnanasundram changed review comment from: 22209247 - COL4A1 form heterotrimers with COL4A2 which results in the cerebral vascular phenotype. No pathogenic variants in COL1A2 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.; to: 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.
Cerebral vascular malformations v0.116 COL4A2 Sangavi Sivagnanasundram changed review comment from: 22209247 - COL1A1 form heterotrimers with COL2A2 which results in the cerebral vascular phenotype. No pathogenic variants in COL1A2 have been reported in individuals with a cerebral vascular phenotype.

COL2A2 is typically associated with haemorrhagic strokes with no evidence of any cerebral vascular malformations.; to: 22209247 - COL4A1 form heterotrimers with COL4A2 which results in the cerebral vascular phenotype. No pathogenic variants in COL1A2 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.
Cerebral vascular malformations v0.50 COL4A2 Zornitza Stark Marked gene: COL4A2 as ready
Cerebral vascular malformations v0.50 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.50 COL4A2 Zornitza Stark Phenotypes for gene: COL4A2 were changed from {Hemorrhage, intracerebral, susceptibility to}, 614519; {Hemorrhage, intracerebral, susceptibility to} to Stroke, hemorrhagic MIM#614519
Cerebral vascular malformations v0.49 COL4A2 Zornitza Stark Publications for gene: COL4A2 were set to
Cerebral vascular malformations v0.48 COL4A2 Zornitza Stark Mode of inheritance for gene: COL4A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.39 COL4A2 Sangavi Sivagnanasundram reviewed gene: COL4A2: Rating: RED; Mode of pathogenicity: None; Publications: 22209247; Phenotypes: Stroke, hemorrhagic MIM#614519; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.0 COL4A2 Zornitza Stark 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}