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Intellectual disability

Gene: RAB11A

Amber List (moderate evidence)

RAB11A (RAB11A, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000103769
EnsemblGeneIds (GRCh37): ENSG00000103769
OMIM: 605570, Gene2Phenotype
RAB11A is in 3 panels

2 reviews

Catherine Snow (Genomics England)

Comment on list classification: Expert review provided by Konstantinos Varvagianni on PMID: 29100083 (Hamdan et al.) Four unrelated individuals identified with three different variants found. This case is a little boderline as little clinical information, no functional evidence reported and currently not associated with a phenotype in OMIM. Has been rated at probable in Gene2Phen based on this publication. Therefore rating as Amber and adding to "wachlist".
Created: 30 May 2019, 11:25 a.m. | Last Modified: 17 Jul 2019, 1:54 p.m.
Panel Version: 0.201

Konstantinos Varvagiannis (Other)

I don't know

PMID: 29100083 (Hamdan et al.) is a study on de novo mutations in individuals with developmental and epileptic encephalopathies (DEE).

One subject from this study was found to harbor a de novo missense RAB11A variant [NM_004663.4:c.244C>T or p.(Arg82Cys)]. This individual presented with epilepsy, developmental regression and severe ID.

In their cohort the authors also identified an additional individual with a de novo missense variant [(c.71A>G or p.(Lys24Arg)] who had moderate ID and abnormal EEG albeit without seizures.

De novo variants in RAB11A had previously been identified in 3 DDD study participants with ID.

The authors obtained clinical details on the 2 individuals with the p.(Ser154Leu) variant [NM_004663.4:c.461C>T]. One of them had moderate ID without seizures while the other had moderate global DD, also without seizures.

A third DDD study participant harbored another missense variant p.(Lys13Asn) [NM_004663.4:c.39A>C] as a de novo occurence. The authors did not manage to obtain clinical details although this patient was reported to have abnormalities of the nervous system in Decipher.

The features of all 4 individuals for whom clinical details were available are summarized in table 7 of the article and extensive information on each one is provided in the supplement.

Previous studies suggest that RAB11A has a role in NTRK2 and AMPA receptor recycling at the post-synaptic membrane of neurons and - as a result - in regulation of synaptic plasticity.
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RAB11A is not associated with any phenotype in OMIM.

This gene is included in the DD panel of G2P, associated with epilepsy and intellectual disability (disease confidence: probable).

It is also included in gene panels for ID offered by some diagnostic laboratories.
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As a result, it can be considered for inclusion in this panel as amber or possibly green (3 unrelated individuals with ID, 1 further with DD).
Sources: Literature
Created: 25 Dec 2018, 10:22 p.m.

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

Phenotypes
Global developmental delay; Intellectual disability

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Global developmental delay
  • Global developmental delay, Intellectual disability
  • Intellectual disability
Tags
watchlist
OMIM
605570
Clinvar variants
Variants in RAB11A
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

Tag watchlist tag was added to gene: RAB11A.

25 Jul 2019, Gel status: 2

Added New Source, Added New Source, Set Phenotypes, Status Update

Catherine Snow (Genomics England)

Source Expert Review was added to RAB11A. Source Expert Review Amber was added to RAB11A. Added phenotypes Global developmental delay, Intellectual disability for gene: RAB11A Rating Changed from No List (delete) to Amber List (moderate evidence)

25 Dec 2018, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Konstantinos Varvagiannis (Other)

gene: RAB11A was added gene: RAB11A was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAB11A were set to 29100083 Phenotypes for gene: RAB11A were set to Global developmental delay; Intellectual disability Penetrance for gene: RAB11A were set to unknown Review for gene: RAB11A was set to AMBER gene: RAB11A was marked as current diagnostic