Polymicrogyria and Schizencephaly
Gene: COL4A1EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 23 panels
1 review
Michelle Torres (Victorian Clinical Genetics Services)
Reduced penetranceCreated: 9 Jan 2020, 10:31 p.m. | Last Modified: 9 Jan 2020, 10:31 p.m.
Panel Version: 0.7
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
1. Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 AD; 2. Brain small vessel disease with or without ocular anomalies, 175780, AD; 3. Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564, AD; 4. ?Retinal arteries, tortuosity of, 180000, AD; 5. {Hemorrhage, intracerebral, susceptibility to}, 614519
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Brain Malformations Flagship
- Phenotypes
-
- 1. Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 AD
- 2. Brain small vessel disease with or without ocular anomalies, 175780, AD
- 3. Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564, AD
- 4. ?Retinal arteries, tortuosity of, 180000, AD
- 5. {Hemorrhage, intracerebral, susceptibility to}, 614519
- OMIM
- 120130
- Clinvar variants
- Variants in COL4A1
- Penetrance
- None
- 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).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: COL4A1 were changed from to 1. Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 AD; 2. Brain small vessel disease with or without ocular anomalies, 175780, AD; 3. Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564, AD; 4. ?Retinal arteries, tortuosity of, 180000, AD; 5. {Hemorrhage, intracerebral, susceptibility to}, 614519
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: COL4A1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: COL4A1 was added gene: COL4A1 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: COL4A1 was set to Unknown