Structural eye disease
Gene: SLC2A1
FC - eye anomalies include cataracts and nystagmus. Mouse model with cataracts (PMID: 29604281) + 2 unrelated patients with de novo mutations and cataracts (Bawazir et al., 2012 - PMID: 22492876 and Flatt et al., 2011 PMID: 21791420). A de novo deletion including this gene has been reported in a patient with cataracts and microphthalmia (PMID: 29223885).Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; 608885
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - eye anomalies include cataracts and nystagmus. Mouse model with cataracts (PMID: 29604281) + 2 unrelated patients with de novo mutations and cataracts (Bawazir et al., 2012 - PMID: 22492876 and Flatt et al., 2011 PMID: 21791420). A de novo deletion including this gene has been reported in a patient with cataracts and microphthalmia (PMID: 29223885).Created: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; 608885
Variants in this GENE are reported as part of current diagnostic practice
gene: SLC2A1 was added gene: SLC2A1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC2A1 were set to STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, 608885