Glaucoma (developmental)
Gene: COL4A1
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
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
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
COL4A1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory