Vasculitis
Gene: COL4A1
COL4A1 (collagen type IV alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 23 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 120130
- Clinvar variants
- Variants in COL4A1
- Penetrance
- None
- 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
17 Nov 2019, Gel status: 3
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 Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL4A1 was set to Unknown