Early onset or syndromic epilepsy

Gene: SLC39A8

Green List (high evidence)

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

Created: 11 Oct 2023, noon | Last Modified: 11 Oct 2023, noon

Panel Version: 4.110

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Associated with Congenital disorder of glycosylation, type IIn (OMIM:616721) in OMIM and as definitive Gen2Phen gene for Intellectual Disability with Cerebellar Atrophy. At least five SLC39A8 variants have been reported in four unrelated cases of OMIM:616721 where seizures, infantile spasms or epilepsy have been reported (PMID: 26637978; 26637979). Haplotype analysis of the cases reported by PMID: 26637978, confirm that although the cases both were homozygous for the same variant (rs778210210), they were unrelated.

Created: 21 Feb 2023, 2:38 p.m. | Last Modified: 21 Feb 2023, 2:38 p.m.

Panel Version: 3.64

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 21 Feb 2023, 2:29 p.m. | Last Modified: 21 Feb 2023, 2:29 p.m.

Panel Version: 3.64

Green List (high evidence)

6 individuals from Hutterite descent and two other unrelated families reported. Seizures reported in 2 Hutterite individuals and also in the other two unrelated families.
Sources: Expert Review

Created: 26 Jan 2020, 9:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIn , MIM#16721

Publications

• 26637978
• 26637979

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