Eye Anterior Segment Abnormalities
Gene: COL4A1EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 23 panels
1 review
Chris Richmond (Genetic Health Queensland)
PMID 21730847: "Anterior segment ocular anomalies (Table 2) including early-onset cataract, ARA, corneal opacities, congenital cataract, microcornea, elevated intraocular pressure, and/or
glaucoma"
Sources: LiteratureCreated: 9 Jan 2020, 3:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; Brain small vessel disease with or without ocular anomalies 175780; Microangiopathy and leukoencephalopathy, pontine 618564
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
- Brain small vessel disease with or without ocular anomalies 175780
- Microangiopathy and leukoencephalopathy, pontine 618564
- OMIM
- 120130
- Clinvar variants
- Variants in COL4A1
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Stroke
- Rhabdomyolysis and Metabolic Myopathy
- Leukodystrophy - adult onset
- Glaucoma congenital
- Brain Calcification
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Muscular dystrophy and myopathy_Paediatric
- Regression
- Haematuria_Alport
- Early-onset Dementia
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Renal Macrocystic Disease
- Mendeliome
- Eye Anterior Segment Abnormalities
- Cataract
- Polymicrogyria and Schizencephaly
- Cerebral vascular malformations
- Spontaneous coronary artery dissection
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col4a1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col4a1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Chris Richmond (Genetic Health Queensland)gene: COL4A1 was added gene: COL4A1 was added to Eye Anterior Segment Abnormalities_VCGS. Sources: Literature Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A1 were set to 21730847; 16598045; 16107487; 20385946 Phenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; Brain small vessel disease with or without ocular anomalies 175780; Microangiopathy and leukoencephalopathy, pontine 618564 Penetrance for gene: COL4A1 were set to unknown Review for gene: COL4A1 was set to GREEN