Structural eye disease

Gene: CRYGC

Green List (high evidence)

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

• 24281366, 29386872

Green List (high evidence)

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

• 24281366
• 29386872

Variants in this GENE are reported as part of current diagnostic practice