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Intellectual disability

Gene: RAB11B

Green List (high evidence)

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

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, 617807
  • Intellectual disability
OMIM
604198
Clinvar variants
Variants in RAB11B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to RAB11B.

10 May 2018, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for RAB11B were set to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807; Intellectual disability

10 May 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for RAB11B were set to 19344873; 29106825

10 May 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for RAB11B were set to 19344873; 29106825

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RAB11B was added to Intellectual disability panel. Sources: Expert Review Red

5 Jan 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

RAB11B was created by Ellen McDonagh