Anophthalmia or microphthalmia
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
2 reviews
David FitzPatrick (University of Edinburgh)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Known expert and lit reviewCreated: 10 May 2016, 11:55 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- OMIM
- 120130
- Clinvar variants
- Variants in COL4A1
- Penetrance
- Complete
- Panels with this gene
-
- Structural eye disease
- Intellectual disability
- Anophthalmia or microphthalmia
- Malformations of cortical development
- Intracerebral calcification disorders
- Early onset or syndromic epilepsy
- Congenital muscular dystrophy
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Inherited white matter disorders
- Adult onset leukodystrophy
- Arthrogryposis
- Proteinuric renal disease
- Fetal anomalies
- Hydrocephalus
- Bilateral congenital or childhood onset cataracts
- Adult onset neurodegenerative disorder
- Cystic kidney disease
- Thoracic aortic aneurysm or dissection
- Cerebral vascular malformations
- Retinal disorders
- Familial cerebral small vessel disease
- Glaucoma (developmental)
- Haematuria
History Filter Activity
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 4
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for COL4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()COL4A1 was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory