Renal and urinary tract disorders
Gene: COL4A1EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 25 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted to green due to expert review and internal clinical feedback.Created: 18 Sep 2017, 9:46 a.m.
Comment on list classification: Clinical feedback from Helen Brittain (Genomics England): "Renal cysts are not a universal feature but are seen in a minority. It is possible (although not most likely) that an individual with COL4A1 related disease could be recruited under the renal cyst category and therefore it seems appropriate to include as green. Physicians receiving variants in their patient would have other allied tests, including CK, to help determine clinical relevance."Created: 18 Sep 2017, 9:45 a.m.
Comment on list classification: 3 families reported with HANAC syndrome with renal cysts, however 2 families reported without renal cysts therefore is not a consistent feature. Awaiting clinical review to determine whether this should be green on this panel.Created: 15 Aug 2017, 12:55 p.m.
John Sayer (Newcastle University)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Exophytic renal cysts; raised creatinine kinase; tortuous retinal vessels; intracranial anuerysms; haematuria
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- haematuria
- tortuous retinal vessels
- intracranial anuerysms
- Exophytic renal cysts
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
- raised creatinine kinase
- OMIM
- 120130
- Clinvar variants
- Variants in COL4A1
- Penetrance
- None
- Publications
- 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
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Comment on list classification
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: COL4A1 was added gene: COL4A1 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A1 were set to 20818663; 18160688 Phenotypes for gene: COL4A1 were set to haematuria; tortuous retinal vessels; intracranial anuerysms; Exophytic renal cysts; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; raised creatinine kinase