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
-
- Arthrogryposis
- Neurodegenerative disorders, adult onset
- Thoracic aortic aneurysm or dissection (GMS)
- Fetal anomalies
- Structural eye disease
- Thoracic aortic aneurysm or dissection
- Early onset or syndromic epilepsy
- DDG2P
- Familial cerebral small vessel disease
- Glaucoma (developmental)
- Malformations of cortical development
- Congenital muscular dystrophy
- Cystic kidney disease
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Proteinuric renal disease
- Anophthalmia or microphthalmia
- Intracerebral calcification disorders
- Retinal disorders
- Bilateral congenital or childhood onset cataracts
- Leukodystrophy, adult onset
- Cerebral vascular malformations
- Inherited white matter disorders
- Haematuria
- Hydrocephalus
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