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DDG2P

Gene: RAB11A

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for RAB11A-related epilepsy and intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:29100083). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02376.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Epilepsy and intellectual disability is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:29100083).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
Epilepsy and intellectual disability; MONDO:0700092; RAB11A-related epilepsy and intellectual disability

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Eleanor Williams (Genomics England Curator)

This panel reflects the content of the Developmental disorders panel on the Gene2Phenotype resource. It will be updated as a whole shortly. This gene is still rated 'strong' (probable) in the Gene2Phenotype resource. It will also be reviewed on the Intellectual disabilities panel (ID 285).
Created: 11 Aug 2022, 5:08 p.m. | Last Modified: 11 Aug 2022, 5:08 p.m.
Panel Version: 2.78
Created: 11 Aug 2022, 5:08 p.m.
Last Modified: 11 Aug 2022, 5:08 p.m.
Panel version: 2.78

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

Additional two cases with microcephaly and brain anomalies reported in PMID: 33875846
Created: 30 Oct 2021, 11:47 a.m. | Last Modified: 30 Oct 2021, 11:47 a.m.
Panel Version: 2.50

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
microcephaly; brain anomalies; intellectual disability

Publications

Created: 30 Oct 2021, 11:47 a.m.
Last Modified: 30 Oct 2021, 11:47 a.m.
Panel version: 2.50

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Epilepsy and intellectual disability
Tags
gene-checked
OMIM
605570
Clinvar variants
Variants in RAB11A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: RAB11A was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to RAB11A. Mode of pathogenicity for gene RAB11A was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Feb 2023, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

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

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: RAB11A was added gene: RAB11A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype 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 Epilepsy and intellectual disability Mode of pathogenicity for gene: RAB11A was set to Other - please provide details in the comments