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Genetic epilepsy syndromes

Gene: SLC39A8

No list

SLC39A8 (solute carrier family 39 member 8)
EnsemblGeneIds (GRCh38): ENSG00000138821
EnsemblGeneIds (GRCh37): ENSG00000138821
OMIM: 608732, Gene2Phenotype
SLC39A8 is in 11 panels

1 review

Zornitza Stark (Australian Genomics)

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

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

History Filter Activity

26 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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