Hydrocephalus
Gene: COL4A1EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 25 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Causation clear. Phenotype is of porencephaly mainly but ventricular dilatation is seen in associationCreated: 9 May 2017, 1:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Porencephaly 1
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Brain small vessel disease with or without ocular anomalies, OMIM:175780
- OMIM
- 120130
- Clinvar variants
- Variants in COL4A1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Thoracic aortic aneurysm or dissection (GMS)
- Intracerebral calcification disorders
- Early onset or syndromic epilepsy
- Structural eye disease
- Inherited white matter disorders
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Malformations of cortical development
- Hydrocephalus
- Adult onset neurodegenerative disorder
- Intellectual disability
- Proteinuric renal disease
- Arthrogryposis
- Thoracic aortic aneurysm or dissection
- Haematuria
- Cystic kidney disease
- DDG2P
- Familial cerebral small vessel disease
- Retinal disorders
- Glaucoma (developmental)
- Congenital muscular dystrophy
- Fetal anomalies
- Anophthalmia or microphthalmia
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: COL4A1 were changed from Porencephaly 1, OMIM:175780 to Brain small vessel disease with or without ocular anomalies, OMIM:175780
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: COL4A1 were changed from Porencephaly 1 175780 to Porencephaly 1, OMIM:175780
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to COL4A1.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for COL4A1 were set to Porencephaly 1 175780
Added New Source
Ellen McDonagh (Genomics England Curator)COL4A1 was added to Hydrocephaluspanel. Source: Expert Review Green
Added New Source
Helen Brittain (Genomics England Curator)COL4A1 was added to Hydrocephaluspanel. Sources: Literature
Created
Helen Brittain (Genomics England Curator)COL4A1 was created by helen.brittain