Intellectual disability
Gene: RAB11B

RAB11B (RAB11B, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000185236
EnsemblGeneIds (GRCh37): ENSG00000185236
OMIM: 604198, Gene2Phenotype
RAB11B is in 6 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: changed from Red to Green- there is enough evidence in the literature to support the pertinence of variants of this gene and an intellectual disability phenotype
Created: 10 May 2018, 3:01 p.m.

Comment on phenotypes: added phenotype from OMIM
Created: 10 May 2018, 2:46 p.m.

Comment on publications: Lamers et al. (2017) PMID:29106825 reported five individuals with two recurrent de novo missense mutations 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.
Created: 10 May 2018, 2:45 p.m.

Comment on publications: added new publication PMID:29106825 to support the intellectual disability and a distinctive brain phenotype
Created: 10 May 2018, 2:30 p.m.

Green rating recommendation by Helen Brittain (Birmingham Women’s and Children’s NHS Foundation Trust).
Created: 10 May 2018, 2:25 p.m.

Probable gene in Developmental Disorders Genotype-Phenotype Database (DDG2P) with the attributed disease as intellectual disability. Currently no Gene-Phenotype relationship described by OMIM or association to ID in the literature.
Created: 18 Dec 2017, 3:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807; Intellectual disability

Publications

19344873

Created: 18 Dec 2017, 3:39 p.m.

Panel version: 2.52

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Victorian Clinical Genetics Services
Expert Review Green

Phenotypes

Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807

OMIM

604198

Clinvar variants

Variants in RAB11B

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 May 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RAB11B were changed from Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807; Intellectual disability to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807

29 Sep 2018, Gel status: 4