This Panel is marked as Retired
Epilepsy Plus
Gene: COL4A1
COL4A1 (collagen type IV alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 25 panels
0 reviews
Details
- Sources
-
- Expert Review Red
- Expert
- OMIM
- 120130
- Clinvar variants
- Variants in COL4A1
- Penetrance
- Complete
- Panels with this gene
-
- Anophthalmia or microphthalmia
- Intracerebral calcification disorders
- Cerebral vascular malformations
- Cystic kidney disease
- Malformations of cortical development
- Inherited white matter disorders
- Proteinuric renal disease
- Fetal anomalies
- Haematuria
- Hydrocephalus
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Early onset or syndromic epilepsy
- Thoracic aortic aneurysm or dissection (GMS)
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Thoracic aortic aneurysm or dissection
- Familial cerebral small vessel disease
- Glaucoma (developmental)
- DDG2P
- Arthrogryposis
- Retinal disorders
- Congenital muscular dystrophy
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
History Filter Activity
8 Sep 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)COL4A1 was added to Epilepsy Pluspanel. Sources: Expert,Expert Review Red
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)COL4A1 was created by ellenmcdonagh