Hereditary ataxia
Gene: SLC2A1Comment on mode of inheritance: Ataxia reported as a phenotypic feature in GLUT1 deficiency syndrome 1, infantile onset, severe 606777 which can be either mono or biallelicCreated: 12 Jan 2017, 3:45 p.m.
Comment on list classification: Evidence from OMIM and expert reviewerCreated: 4 Feb 2016, 5:13 p.m.
Fine. Loads of evidence. Positives in our cohort. Mode of inheritance/pathogenicity: AD LoF/Haploinsufficiency (rarely AR)Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SLC2A1 were changed from to Dystonia 9, 601042; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885
Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
SLC2A1 was added to Hereditary ataxiapanel. Sources: UKGTN