Structural eye disease
Gene: CRYGD
RH 1. Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Hansen et al Invest Ophthalmol Vis Sci. 2007 Sep;48(9):3937-44. Nonsense CRYGD mutation inherited from affected parent to affected child. Have microcornea and cataract.Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract 4, Multiple Types; 115700
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). RH 1. Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Hansen et al Invest Ophthalmol Vis Sci. 2007 Sep;48(9):3937-44. Nonsense CRYGD mutation inherited from affected parent to affected child. Have microcornea and cataract.Created: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract 4, Multiple Types; 115700
Variants in this GENE are reported as part of current diagnostic practice
gene: CRYGD was added gene: CRYGD was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CRYGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CRYGD were set to Cataract 4, Multiple Types, 115700