Early onset or syndromic epilepsy
Gene: SLC39A8
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
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
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 ReviewCreated: 26 Jan 2020, 9:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIn , MIM#16721
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q1_23_promote_green was removed from gene: SLC39A8.
Source NHS GMS was added to SLC39A8. Source Expert Review Green was added to SLC39A8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_23_promote_green tag was added to gene: SLC39A8.
Gene: slc39a8 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn , MIM#16721 to Congenital disorder of glycosylation, type IIn, OMIM:616721; SLC39A8-CDG, MONDO:0014746
gene: SLC39A8 was added gene: SLC39A8 was added to Genetic epilepsy syndromes. Sources: Expert Review Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A8 were set to 26637978; 26637979 Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn , MIM#16721 Review for gene: SLC39A8 was set to GREEN gene: SLC39A8 was marked as current diagnostic