Malformations of cortical development
Gene: COL4A2
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
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: LiteratureCreated: 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
Gene: col4a2 has been classified as Amber List (Moderate Evidence).
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
Mode of inheritance for gene: COL4A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q4_23_promote_green tag was added to gene: COL4A2. Tag Q4_23_NHS_review tag was added to gene: COL4A2.
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