Structural eye disease
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
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
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