This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
Gene: COL4A1
COL4A1 (collagen type IV alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 25 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773
- OMIM
- 120130
- Clinvar variants
- Variants in COL4A1
- Penetrance
- None
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Intracerebral calcification disorders
- Adult onset neurodegenerative disorder
- Structural eye disease
- Inherited white matter disorders
- Cerebral vascular malformations
- Arthrogryposis
- Adult onset leukodystrophy
- Malformations of cortical development
- Hydrocephalus
- Retinal disorders
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Proteinuric renal disease
- Early onset or syndromic epilepsy
- Thoracic aortic aneurysm or dissection
- Haematuria
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Familial cerebral small vessel disease
- White matter disorders and cerebral calcification - narrow panel
- Glaucoma (developmental)
- Congenital muscular dystrophy
- Anophthalmia or microphthalmia
History Filter Activity
28 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: COL4A1 was added gene: COL4A1 was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Green,Expert list Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773