Structural eye disease
Gene: CRYGC
RH 1. Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities Sun et al, Mol Vis. 2017; 23: 977986. - nonsense mutation in proband, inherited from parent, both have microcornea. 2. Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1 Prokudin et al Eur J Hum Genet. 2014 Jul; 22(7): 907915. Family four has a missense which is inherited with affected status. Affecteds have cataracts and microphthalmia. 3. A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree Guo et al Mol Vis. 2012; 18: 18741880. - Stop mutation in CRYGC in all affected members (and not in unaffected) with cataract and microcornea.Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract 2, multiple types (often with microcornea); 604307
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). RH 1. Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities Sun et al, Mol Vis. 2017; 23: 977986. - nonsense mutation in proband, inherited from parent, both have microcornea. 2. Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1 Prokudin et al Eur J Hum Genet. 2014 Jul; 22(7): 907915. Family four has a missense which is inherited with affected status. Affecteds have cataracts and microphthalmia. 3. A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree Guo et al Mol Vis. 2012; 18: 18741880. - Stop mutation in CRYGC in all affected members (and not in unaffected) with cataract and microcornea.Created: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract 2, multiple types (often with microcornea); 604307
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: CRYGC was added gene: CRYGC was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CRYGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYGC were set to 29386872; 24281366 Phenotypes for gene: CRYGC were set to Cataract 2, multiple types (often with microcornea), 604307