This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert list
- Victorian Clinical Genetics Services
- 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
-
- Adult onset neurodegenerative disorder
- DDG2P
- Proteinuric renal disease
- Thoracic aortic aneurysm or dissection
- Haematuria
- Bilateral congenital or childhood onset cataracts
- Familial cerebral small vessel disease
- White matter disorders and cerebral calcification - narrow panel
- Glaucoma (developmental)
- Arthrogryposis
- Malformations of cortical development
- Congenital muscular dystrophy
- Structural eye disease
- Early onset or syndromic epilepsy
- Fetal anomalies
- Retinal disorders
- Anophthalmia or microphthalmia
- Thoracic aortic aneurysm or dissection (GMS)
- Intracerebral calcification disorders
- Cystic kidney disease
- Inherited white matter disorders
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Intellectual disability
- Hydrocephalus
History Filter Activity
24 Dec 2019, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773 for gene: COL4A1
23 Dec 2019, Gel status: 3
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source Expert list was added to COL4A1. Mode of inheritance for gene COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773 for gene: COL4A1
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: COL4A1 was added gene: COL4A1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL4A1 was set to Unknown