BabyScreen+ newborn screening

Gene: SLC2A1

Green List (high evidence)

Few bi-allelic cases reported. Presentation is more severe, uncertain if outcome would be comparable but no reason not to try treatment. Likely to be symptomatic in infancy anyway.

Created: 14 Dec 2022, 5:15 a.m. | Last Modified: 14 Dec 2022, 5:15 a.m.

Panel Version: 0.1420

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; GLUT1 deficiency syndrome 2, childhood onset, MIM#612126

Green List (high evidence)

Comment on mode of inheritance: Review if bi-allelic form is indeed relevant for NBS

Created: 12 Dec 2022, 4:35 a.m. | Last Modified: 12 Dec 2022, 4:35 a.m.

Panel Version: 0.1325

Established gene-disease association.

Childhood onset, neurological disorder. Variable severity, with null variants generally more severe.

Treatment: ketogenic diet and carnitine, avoid barbiturates, methyxanthine(caffeine), valproic acid

Non-genetic confirmatory test: comparison of blood glucose concentration with CSF glucose concentration obtained after 4 hr fast

Created: 12 Dec 2022, 4:34 a.m. | Last Modified: 12 Dec 2022, 4:34 a.m.

Panel Version: 0.1323

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; GLUT1 deficiency syndrome 2, childhood onset, MIM#612126