Inherited white matter disordersGene: UNC13D
Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:05 p.m.
Bi-allelic variants in UNC13D are classically associated with HLH; however, note this report of brain involvement, including white matter changes. Similar to that reported with another HLH gene, PRF1. Merits watching for further reports?
Created: 24 Jul 2018, 11:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: unc13d has been classified as Red List (Low Evidence).
UNC13D was added to Inherited white matter disorders panel. Sources: Expert list
UNC13D was created by Zornitza Stark