This Panel is marked as Retired
Epileptic encephalopathy
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
4 reviews
Amy McTague (UCL Institute of Child Health)
Natalie Trump (NHS - Great Ormond Street Hospital)
Manju Kurian (UCL-Institute of Child Health)
Richard Scott (North Thames GMC/UCL)
Details
- Sources
-
- Expert Review Red
- Expert
- OMIM
- 120130
- Clinvar variants
- Variants in COL4A1
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Intracerebral calcification disorders
- Adult onset neurodegenerative disorder
- Structural eye disease
- Inherited white matter disorders
- Cerebral vascular malformations
- Arthrogryposis
- Adult onset leukodystrophy
- Malformations of cortical development
- Hydrocephalus
- Retinal disorders
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Proteinuric renal disease
- Early onset or syndromic epilepsy
- Thoracic aortic aneurysm or dissection
- Haematuria
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Familial cerebral small vessel disease
- White matter disorders and cerebral calcification - narrow panel
- Glaucoma (developmental)
- Congenital muscular dystrophy
- Anophthalmia or microphthalmia
History Filter Activity
13 Nov 2015, Gel status: 1
gel status update
GEL ()The Gel status was updated for this whole panel
13 Nov 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)COL4A1 was added to Epileptic encephalopathypanel. Source: Expert Review Red
13 Nov 2015, Gel status: 0
gel status update
GEL ()The Gel status was updated for this whole panel
1 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)COL4A1 was added to Epileptic encephalopathypanel. Sources: Expert