Inherited white matter disorders
Gene: RAB11B
Comment on list classification: Upgraded from Red to Green. At least 2 variants reported in 5 unrelated cases, of which white matter abnormalities were reported in all cases (4) for which brain imaging was available.Created: 26 May 2021, 3:43 p.m. | Last Modified: 26 May 2021, 3:43 p.m.
Panel Version: 1.102
Lamers et al. (2017) PMID:29106825 reported five unrelated individuals with two recurrent de novo missense variants in RAB11B; c.64G>A; p.Val22Met in three individuals and c.202G>A; p.Ala68Thr in two individuals. An overlapping neurodevelopmental phenotype, including severe intellectual disability with absent speech, epilepsy, and hypotonia was observed in all affected individuals. Severely decreased white matter volume (cerebral cortex more severely affected than cerebellum) was evident in 4 individuals for whom brain MRI images were available.Created: 26 May 2021, 3:39 p.m. | Last Modified: 26 May 2021, 3:39 p.m.
Panel Version: 1.101
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807
Publications
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
Phenotypes
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, MIM#617807
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: rab11b has been classified as Green List (High Evidence).
Phenotypes for gene: RAB11B were changed from Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, MIM#617807 to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807
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