Adult onset neurodegenerative disorder
Gene: COL4A2
The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, not imprinted' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:22 p.m. | Last Modified: 1 Feb 2023, 12:22 p.m.
Panel Version: 3.49
Comment on classification: Sufficient evidence to promote this gene to Green at the next GMS panel update. >3 unrelated cases including relevant phenotype (hemorrhagic stroke) and the age of onset was confirmed in these cases to be over 40.
COL4A2 has been associated with relevant phenotypes in both OMIM and G2P.Created: 4 Jan 2023, 8:22 p.m. | Last Modified: 4 Jan 2023, 8:22 p.m.
Panel Version: 3.13
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brain small vessel disease 2, OMIM:614483; {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
Review submitted on behalf of David Lynch, James Polke, Henry Houlden, Lucy Jenkins. Mode of inheritance: AD. Phenotype: Brain small vessel disease 2. Evidence: MIM: 614483Created: 22 Dec 2022, 12:10 p.m. | Last Modified: 22 Dec 2022, 12:10 p.m.
Panel Version: 3.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Brain small vessel disease 2
Tag Q1_23_promote_green was removed from gene: COL4A2.
Source NHS GMS was added to COL4A2. Source Expert Review Green was added to COL4A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_23_promote_green tag was added to gene: COL4A2.
Phenotypes for gene: COL4A2 were changed from to Brain small vessel disease 2, OMIM:614483; {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
Mode of inheritance for gene: COL4A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: col4a2 has been classified as Amber List (Moderate Evidence).
gene: COL4A2 was added gene: COL4A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: COL4A2 was set to