Glaucoma (developmental)
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
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 120130
- Clinvar variants
- Variants in COL4A1
- Penetrance
- Complete
- 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
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
Added New Source
Eik Haraldsdottir (Genomics England)COL4A1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory