Inherited white matter disordersGene: NAXE
Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:03 p.m.
11 individuals from 5 unrelated families reported in the literature, leukoencephalopathy is part of the phenotype.
Created: 24 Jul 2018, 3 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186
Variants in this GENE are reported as part of current diagnostic practice
Gene: naxe has been classified as Red List (Low Evidence).
NAXE was added to Inherited white matter disorders panel. Sources: Expert list
NAXE was created by Zornitza Stark