Malformations of cortical development
Gene: COL4A1EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 25 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
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
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in both OMIM and Gene2Phenotype (Porencephaly 1 with 'definitive' rating in the DD panel).Created: 13 Dec 2023, 11:25 p.m. | Last Modified: 13 Dec 2023, 11:25 p.m.
Panel Version: 4.19
Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.Created: 13 Dec 2023, 10:57 p.m. | Last Modified: 13 Dec 2023, 11:23 p.m.
Panel Version: 4.18
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773; Brain small vessel disease with or without ocular anomalies, OMIM:175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564; {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)
COL4A1 variants are commonly associated with cortical malformations (Schizencephaly, porencephaly, polymicrogyria, focal cortical dysplasia, and nodular heterotopia) in literature. further information available on Genreviews Plaisier E, Ronco P. COL4A1-Related Disorders. 2009 Jun 25 [Updated 2016 Jul 7]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK7046/
COL4A1 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, 11:51 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773
- Brain small vessel disease with or without ocular anomalies, OMIM:175780
- Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564
- {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
- OMIM
- 120130
- Clinvar variants
- Variants in COL4A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Thoracic aortic aneurysm or dissection (GMS)
- Early onset or syndromic epilepsy
- DDG2P
- Intracerebral calcification disorders
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Hydrocephalus
- Cystic kidney disease
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Haematuria
- Arthrogryposis
- Fetal anomalies
- Familial cerebral small vessel disease
- Proteinuric renal disease
- Glaucoma (developmental)
- Congenital muscular dystrophy
- Anophthalmia or microphthalmia
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: COL4A1. Tag Q4_23_NHS_review was removed from gene: COL4A1.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to COL4A1. Source Expert Review Green was added to COL4A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: COL4A1 were changed from Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773; Brain small vessel disease with or without ocular anomalies, OMIM:175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564; {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519 to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773; Brain small vessel disease with or without ocular anomalies, OMIM:175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564; {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green tag was added to gene: COL4A1. Tag Q4_23_NHS_review tag was added to gene: COL4A1.
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: col4a1 has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: COL4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: COL4A1 were changed from Malformations of cortical development; Schizencephaly; porencephaly; polymicrogyria; focal cortical dysplasia; nodular heterotopia to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773; Brain small vessel disease with or without ocular anomalies, OMIM:175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564; {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)gene: COL4A1 was added gene: COL4A1 was added to Malformations of cortical development. Sources: Literature Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL4A1 were set to 30837194; 37157232; 30413629; 36324412 Phenotypes for gene: COL4A1 were set to Malformations of cortical development; Schizencephaly; porencephaly; polymicrogyria; focal cortical dysplasia; nodular heterotopia Review for gene: COL4A1 was set to GREEN