Polymicrogyria and Schizencephaly
Gene: COL4A1
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
Gene: col4a1 has been classified as Green List (High Evidence).
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
Publications for gene: COL4A1 were set to
Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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