Structural eye disease
Gene: COL4A1EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 25 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
DB Deml et al. 2014: 2 unrelated cases with microphthalmia, one other case by Matias-Perez et al. 2018; reported cases have missense variantsCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES; 607595
Publications
Mode of pathogenicity
Other - please provide details in the comments
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Deml et al. 2014: 2 unrelated cases with microphthalmia, one other case by Matias-Perez et al. 2018; reported cases have missense variantsCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 175780
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 175780
- OMIM
- 120130
- Clinvar variants
- Variants in COL4A1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- 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
- Retinal disorders
- 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
Added New Source, Set mode of pathogenicity, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to COL4A1. Mode of pathogenicity for gene COL4A1 was changed from to Other - please provide details in the comments Added phenotypes BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 175780 for gene: COL4A1 Publications for gene COL4A1 were changed from to 30181649; 24628545
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: COL4A1 was added gene: COL4A1 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown