Inherited white matter disorders

Gene: RAB11B

Green List (high evidence)

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

• 29106825

Comment on list classification: This gene is awaiting curator evaluation and rating.

Created: 19 Dec 2018, 1:04 p.m.

Green List (high evidence)

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

• 29106825

Variants in this GENE are reported as part of current diagnostic practice