Ataxia - paediatric

Gene: SLC2A1

Green List (high evidence)

Well established gene disease association.
Sources: Expert list

Created: 6 Feb 2021, 3:42 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126; Disorders of glucose transport

Green List (high evidence)

Reduced penetrance has been reported in several families with either GLUT1 deficiency syndrome or epilepsy, all carrying missense well established to be pathogenic in ClinVar (Weber et al. 2008, OMIM)

Missense variants have been reported for all conditions. No strong genotype-phenotype correlation, Leen WG, et al. (2010):
- Patients with missense had 79% ID, 63% movement disorders
- Patients with PTCs/ss had 26% ID, 88% movement disorders

LOF mechanism for all variant types

Mostly AD, AR has been reported in a few cases

Created: 18 Dec 2020, 2:35 a.m. | Last Modified: 18 Dec 2020, 2:35 a.m.

Panel Version: 0.5677

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777; Dystonia 9, MIM#601042; Stomatin-deficient cryohydrocytosis with neurologic defects, MIM#608885; GLUT1 deficiency syndrome 2, childhood onset, MIM#612126; {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847

Publications

• PMID:18451999
• 20129935
• 10980529
• 20221955
• 31196579

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