Renal Macrocystic Disease
Gene: COL4A1EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 23 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Large renal cysts described in multiple individuals with this condition.
Sources: Expert listCreated: 30 Dec 2019, 10:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773
- 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).
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: COL4A1 was added gene: COL4A1 was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert list Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A1 were set to 25719457; 15882279 Phenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773 Review for gene: COL4A1 was set to GREEN