Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted to green due to expert review.
Created: 31 May 2016, 11:16 a.m.
Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for GLUT1 and GLUT 2 deficiency syndrome, however it is unclear whether cataracts is an associated phenotype. Cataracts is a phenotype within Stomatin-deficient cryohydrocytosis with neurologic defects on OMIM: http://omim.org/clinicalSynopsis/608885, for which this gene is associated with.
Created: 29 Apr 2016, 2:28 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for SLC2A1 were set to Stomatin-deficient cryohydrocytosis with neurologic defects 608885
Phenotypes for SLC2A1 were set to Cryohydrocytosis, stomatin-deficient
Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for SLC2A1 were set to Gillespie et al (2016) Ophthalmol 123:217-220; Flatt et al (2011) 118(19):5267-77
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
SLC2A1 was added to Cataractspanel. Sources: UKGTN