Inborn errors of metabolismGene: SLC5A6
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 2:08 p.m. | Last Modified: 20 Oct 2020, 2:08 p.m.
Panel Version: 2.24
Comment on list classification: Based on five variants in three unrelated cases, together with supportive animal model studies.
Created: 2 Jun 2020, 6:04 p.m. | Last Modified: 26 Oct 2020, 3:20 p.m.
Panel Version: 2.24
Not associated with phenotype in OMIM and as possible Gen2Phen gene for SLC5A6-related Neurodevelopmental Disorder. At least 5 variants published in three unrelated famililies (4 cases total) with SLC5A6-related Neurodevelopmental Disorder, together with supportive functional studies (PMID 29669219; 23104561). One of the cases had mixed semiology seizures including focal dyscognitive, absence, tonic spasms and generalised convulsive seizures with electrographic features of encephalopathy with generalised and independent multifocal spike-wave discharges (PMID 31754459), another case had brain, immune, bone and intestinal dysfunction (PMID 27904971) and the third had metabolic dysfunction mimicking biotinidase deficiency (PMID 31392107). This condition could be treated with biotin supplementation and introduction of pantothenic acid supplementation (PMID 31392107).
Created: 2 Jun 2020, 6:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
SLC5A6-related Neurodevelopmental Disorder
Gene: slc5a6 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: SLC5A6.
Gene: slc5a6 has been classified as Green List (High Evidence).
gene: SLC5A6 was added gene: SLC5A6 was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A6 were set to 27904971; 31392107; 31754459; 23104561; 29669219 Phenotypes for gene: SLC5A6 were set to SLC5A6-related Neurodevelopmental Disorder Review for gene: SLC5A6 was set to GREEN