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  3. COL4A2
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Malformations of cortical development

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: 2 May 2024, 11:02 a.m. | Last Modified: 2 May 2024, 11:02 a.m.
Panel Version: 5.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 2 May 2024, 11:02 a.m.
Last Modified: 2 May 2024, 11:02 a.m.
Panel version: 5.2

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence for the promotion of this gene to green rating in the next GMS review.
Created: 13 Dec 2023, 11:22 p.m. | Last Modified: 13 Dec 2023, 11:22 p.m.
Panel Version: 4.18
There are at least three unrelated cases of porencephaly reported with monoallelic variants in COL4A2.

This gene has also been associated with relevant phenotypes in both OMIM and Gene2Phenotype (Porencephaly 2 with 'moderate' rating in the DD panel).
Created: 13 Dec 2023, 11:20 p.m. | Last Modified: 13 Dec 2023, 11:22 p.m.
Panel Version: 4.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brain small vessel disease 2, OMIM:614483; {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519

Created: 13 Dec 2023, 11:20 p.m.
Last Modified: 13 Dec 2023, 11:22 p.m.
Panel version: 4.15

Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

Green List (high evidence)

COL4A2 variants are commonly associated with cortical malformations (Schizencephaly, porencephaly, polymicrogyria, focal cortical dysplasia, and nodular heterotopia) in literature.
COL4A2 variants are associated with porencephaly. however, it is not included in the R87 Cerebral malformation panel (indications as per the national genomic test directory include "
Cerebral malformation such as cortical malformation or porencephaly with features suggestive of a monogenic cause"
Sources: Literature
Created: 11 Oct 2023, 11:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Malformations of cortical development; Schizencephaly; porencephaly; polymicrogyria; focal cortical dysplasia; nodular heterotopia

Publications

Created: 11 Oct 2023, 11:56 a.m.

Panel version: 4.12

Details

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

History Filter Activity

2 May 2024, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: COL4A2. Tag Q4_23_NHS_review was removed from gene: COL4A2.

2 May 2024, 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)

13 Dec 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).

13 Dec 2023, Gel status: 0

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: COL4A2 were changed from Malformations of cortical development; Schizencephaly; porencephaly; polymicrogyria; focal cortical dysplasia; nodular heterotopia to Brain small vessel disease 2, OMIM:614483; {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519

13 Dec 2023, Gel status: 0

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

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

13 Dec 2023, Gel status: 0

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: COL4A2. Tag Q4_23_NHS_review tag was added to gene: COL4A2.

11 Oct 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

gene: COL4A2 was added gene: COL4A2 was added to Malformations of cortical development. Sources: Literature Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL4A2 were set to 30413629; 36324412; 22333902 Phenotypes for gene: COL4A2 were set to Malformations of cortical development; Schizencephaly; porencephaly; polymicrogyria; focal cortical dysplasia; nodular heterotopia