Likely inborn error of metabolism

Gene: 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

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval

Created: 3 Mar 2022, 12:59 p.m. | Last Modified: 3 Mar 2022, 12:59 p.m.

Panel Version: 2.223

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).
Sources: Literature

Created: 2 Jun 2020, 6:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SLC5A6-related Neurodevelopmental Disorder

Publications

• 27904971
• 31392107
• 31754459
• 23104561
• 29669219