Bilateral congenital or childhood onset cataracts
Gene: COL4A1EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 25 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Phenotypes
Brain small vessel disease with or without ocular anomalies
Publications
- Shah et al (2012) Dev Med Child Neurol 54:569-574
- Deml et al (2014) Clin Genet 86:475-481
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed in publications.Created: 31 May 2016, 8:37 a.m.
Comment on list classification: Promoted to green due to expert review and evidence provided.Created: 31 May 2016, 8:36 a.m.
Comment on mode of inheritance: Source: G2P and PMID: 24628545.Created: 25 May 2016, 10:38 a.m.
Is on the Manchester congenital cataracts gene panel for the association Brain small vessel disease with Axenfeld-Rieger anomaly. Is a "Both DD and IF" gene in G2P for porencephaly 1.
Created: 29 Apr 2016, 10:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Brain small vessel disease with or without ocular anomalies
- complex ocular phenotypes involving microphthalmia
- Congenital cataracts
- OMIM
- 120130
- Clinvar variants
- Variants in COL4A1
- Penetrance
- Complete
- Publications
-
- Shah et al (2012) Dev Med Child Neurol 54:569-574
- Deml et al (2014) Clin Genet 86:475-481
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Thoracic aortic aneurysm or dissection (GMS)
- Early onset or syndromic epilepsy
- DDG2P
- Intracerebral calcification disorders
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Hydrocephalus
- Cystic kidney disease
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Haematuria
- Arthrogryposis
- Fetal anomalies
- Familial cerebral small vessel disease
- Proteinuric renal disease
- Glaucoma (developmental)
- Congenital muscular dystrophy
- Anophthalmia or microphthalmia
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for COL4A1 were set to Brain small vessel disease with or without ocular anomalies; complex ocular phenotypes involving microphthalmia; Congenital cataracts
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for COL4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for COL4A1 were set to Shah et al (2012) Dev Med Child Neurol 54:569-574; Deml et al (2014) Clin Genet 86:475-481
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for COL4A1 were set to Brain small vessel disease with or without ocular anomalies
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for COL4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
GEL ()COL4A1 was added to Cataractspanel. Sources: UKGTN