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Early onset or syndromic epilepsy

Gene: RAB11A

Amber List (moderate evidence)

RAB11A (RAB11A, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000103769
EnsemblGeneIds (GRCh37): ENSG00000103769
OMIM: 605570, Gene2Phenotype
RAB11A is in 4 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Promoting from red to amber. 2 patients reported with seizures, 1 each in PMID: 29100083 and PMID: 33875846 but little clinical information.
Created: 13 Aug 2022, 3:35 p.m. | Last Modified: 13 Aug 2022, 3:35 p.m.
Panel Version: 2.571
Not associated with a phenotype in OMIM. Has a strong/probable association with 'Epilepsy and intellectual disability' in Gene2Phenotype.

PMID: 29100083 - Hamdan et al 2017 - performed WGS on 197 individuals with unexplained Developmental and epileptic encephalopathy and pharmaco-resistant seizures and their unaffected parents. 2 patients reported with heterozygous missense variants in RAB11A, one of which had seizures (c.244C>T [p.Arg82Cys] variant) in addition to developing severe ID. 2 other individuals with missense variants in RAB11A and some phenotypic data from the DDD project are described but neither had seizures.

PMID: 33875846 - Bertoli-Avella et al 2021 - in a large study of patients with no initial diagnostic variants identified by ES/GS, they identified two different heterozygous missense variants in RAB11A in two unrelated patients (NM_004663.4: c.375G>T, p. Lys125Asn and NM_004663.4: c.380A>G, p. Asp127Gly). Little patient information but the patient with the p. Asp127Gly variant is reported to have refractory epileptic spasms. Both had brain anomalies and intellectual disability reported.
Created: 13 Aug 2022, 3:33 p.m. | Last Modified: 14 Aug 2022, 4:18 p.m.
Panel Version: 2.571


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Expert Review Amber
  • Literature
  • Global developmental delay, HP:0001263
  • Intellectual disability, HP:0001249
  • seizures
Clinvar variants
Variants in RAB11A
Panels with this gene

History Filter Activity

7 Feb 2023, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: RAB11A.

13 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: rab11a has been classified as Amber List (Moderate Evidence).

11 Aug 2022, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: RAB11A was added gene: RAB11A was added to Genetic epilepsy syndromes. 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; 33875846 Phenotypes for gene: RAB11A were set to Global developmental delay, HP:0001263; Intellectual disability, HP:0001249; seizures