Inherited white matter disordersGene: VPS11
Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:05 p.m.
Recurrent homozygous variant identified in multiple unrelated Ashkenazi Jewish families.
Created: 24 Jul 2018, 12:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy, hypomyelinating, 12, MIM#616683
Variants in this GENE are reported as part of current diagnostic practice
Gene: vps11 has been classified as Red List (Low Evidence).
VPS11 was added to Inherited white matter disorders panel. Sources: Expert list
VPS11 was created by Zornitza Stark