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Date	Panel	Item	Activity
Filter activities 13 actions
07 Jun 2026	Cerebral vascular malformations v2.0	COL4A1	Gene migrated from ENSG00000187498 to ENSG00000187498 (gene set migration)
02 Dec 2024	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.
02 Dec 2024	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.
16 Jun 2022	Cerebral vascular malformations v0.31	COL4A1	Zornitza Stark Marked gene: COL4A1 as ready
16 Jun 2022	Cerebral vascular malformations v0.31	COL4A1	Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
16 Jun 2022	Cerebral vascular malformations v0.31	COL4A1	Zornitza Stark Phenotypes for gene: COL4A1 were changed from {Hemorrhage, intracerebral, susceptibility to}, 614519; Brain small vessel disease with or without ocular anomalies; Brain Small Vessel Disease with Hemorrhage; {Hemorrhage, intracerebral, susceptibility to} to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773; Brain small vessel disease with or without ocular anomalies, MIM# 175780
16 Jun 2022	Cerebral vascular malformations v0.30	COL4A1	Zornitza Stark Publications for gene: COL4A1 were set to
16 Jun 2022	Cerebral vascular malformations v0.29	COL4A1	Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Jun 2022	Cerebral vascular malformations v0.28	COL4A1	Zornitza Stark Classified gene: COL4A1 as Green List (high evidence)
16 Jun 2022	Cerebral vascular malformations v0.28	COL4A1	Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
16 Jun 2022	Cerebral vascular malformations v0.27	COL4A1	Zornitza Stark reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773, Brain small vessel disease with or without ocular anomalies, MIM# 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
10 Jun 2022	Cerebral vascular malformations v0.27	COL4A1	Nicola Fearn reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27794444, PMID 25719457, OMIM 120130; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 May 2020	Cerebral vascular malformations v0.0	COL4A1	Zornitza Stark gene: COL4A1 was added gene: COL4A1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL4A1 were set to {Hemorrhage, intracerebral, susceptibility to}, 614519; Brain small vessel disease with or without ocular anomalies; Brain Small Vessel Disease with Hemorrhage; {Hemorrhage, intracerebral, susceptibility to}