Inherited white matter disordersGene: RAB11B
Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:04 p.m.
5 unrelated patients reported with de novo variants in this gene, white matter abnormalities are a prominent feature of the phenotype.
Created: 24 Jul 2018, 6:19 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, MIM#617807
Variants in this GENE are reported as part of current diagnostic practice
Gene: rab11b has been classified as Red List (Low Evidence).
RAB11B was added to Inherited white matter disorders panel. Sources: Expert list
RAB11B was created by Zornitza Stark