Proteinuric renal disease
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
1 review
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: COL4A1; Suggested initial gene rating: red; Evidence for inclusion: PMID27190376; Other comments: One report with het frameshift variant and microscopic haematuriaCreated: 4 Feb 2019, 10:41 a.m.
Phenotypes
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #611773
Publications
- PMID27190376
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #611773
- OMIM
- 120130
- Clinvar variants
- Variants in COL4A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Retinal disorders
- DDG2P
- Intracerebral calcification disorders
- Adult onset leukodystrophy
- Inherited white matter disorders
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Hydrocephalus
- Cystic kidney disease
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Haematuria
- Arthrogryposis
- Early onset or syndromic epilepsy
- Fetal anomalies
- Familial cerebral small vessel disease
- Proteinuric renal disease
- Glaucoma (developmental)
- White matter disorders and cerebral calcification - narrow panel
- Congenital muscular dystrophy
- Anophthalmia or microphthalmia
- Intellectual disability
History Filter Activity
23 Jun 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: COL4A1 were changed from to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #611773
23 Jun 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: COL4A1 were set to
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: COL4A1 was added gene: COL4A1 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: COL4A1 was set to