Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Cerebral vascular malformations v2.0 COL4A2 Gene migrated from ENSG00000134871 to ENSG00000134871 (gene set migration)
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}