Inherited white matter disordersGene: SLC13A5
Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:04 p.m.
8 patients from 5 families specifically described as having white matter lesions as part of their EE phenotype.
Created: 24 Jul 2018, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Epileptic encephalopathy, early infantile 25, EIEE 25, MIM#615905
Variants in this GENE are reported as part of current diagnostic practice
Gene: slc13a5 has been classified as Red List (Low Evidence).
SLC13A5 was added to Inherited white matter disorders panel. Sources: Expert list
SLC13A5 was created by Zornitza Stark