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| Malformations of cortical development v5.4 | COL4A2 |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: COL4A2. Tag Q4_23_NHS_review was removed from gene: COL4A2. |
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| Malformations of cortical development v5.3 | COL4A2 |
Arina Puzriakova 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) |
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| Malformations of cortical development v5.2 | COL4A2 | Arina Puzriakova reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v4.18 | COL4A2 | Achchuthan Shanmugasundram Classified gene: COL4A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v4.18 | COL4A2 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v4.18 | COL4A2 | Achchuthan Shanmugasundram Gene: col4a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v4.17 | COL4A2 |
Achchuthan Shanmugasundram changed review comment from: 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 (with 'moderate' rating in the DD panel).; to: 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). |
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| Malformations of cortical development v4.17 | COL4A2 | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v4.16 | COL4A2 | Achchuthan Shanmugasundram Mode of inheritance for gene: COL4A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v4.15 | COL4A2 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: COL4A2. Tag Q4_23_NHS_review tag was added to gene: COL4A2. |
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| Malformations of cortical development v4.15 | COL4A2 | Achchuthan Shanmugasundram reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease 2, OMIM:614483, {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v4.12 | COL4A2 | Nour Elkhateeb edited their review of gene: COL4A2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v4.8 | COL4A2 |
Nour Elkhateeb 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 Added comment: 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 |
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