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  3. COL4A2
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Adult onset neurodegenerative disorder

Gene: COL4A2

Green List (high evidence)
COL4A2 (collagen type IV alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000134871
EnsemblGeneIds (GRCh37): ENSG00000134871
OMIM: 120090, Gene2Phenotype
COL4A2 is in 11 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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
Created: 1 Feb 2023, 12:22 p.m.
Last Modified: 1 Feb 2023, 12:22 p.m.
Panel version: 3.49

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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

Created: 4 Jan 2023, 8:22 p.m.
Last Modified: 4 Jan 2023, 8:22 p.m.
Panel version: 3.13

Eleanor Williams (Genomics England Curator)

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: 614483
Created: 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

Created: 22 Dec 2022, 12:10 p.m.
Last Modified: 22 Dec 2022, 12:10 p.m.
Panel version: 3.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Brain small vessel disease 2, OMIM:614483
  • {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
OMIM
120090
Clinvar variants
Variants in COL4A2
Penetrance
None
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_23_promote_green was removed from gene: COL4A2.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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)

5 Jan 2023, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_23_promote_green tag was added to gene: COL4A2.

4 Jan 2023, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: COL4A2 were changed from to Brain small vessel disease 2, OMIM:614483; {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519

4 Jan 2023, Gel status: 2

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: COL4A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 Jan 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: col4a2 has been classified as Amber List (Moderate Evidence).

22 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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