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Genetic epilepsy syndromes

Gene: RAB11B

Green List (high evidence)

RAB11B (RAB11B, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000185236
EnsemblGeneIds (GRCh37): ENSG00000185236
OMIM: 604198, Gene2Phenotype
RAB11B is in 7 panels

5 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD neurodevelopmental disorder with ataxic gait, absent speech and decreased cortical white matter - delayed and difficult walking, intellectual disability, absent speech and variable additional features including seizures. Lamers et al, 2017 - 5 unrelated patients similar features - 3 had childhood-onset epilepsy, 1 had a single seizures and 1 did not have anty seizures. Identify 2 recurrent de novo het missense variants - V22M and A68T. In vitro studies and molecular modelling done.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported in 5 unrelated cases, of which epileptic seizures were reported in three cases. Protein modeling suggested that both variants alter the GTP/GDP binding pocket and reveal that they both have localization patterns similar to inactive RAB11B (PMID 29106825).
Created: 26 Nov 2018, 2:27 p.m.

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Added phenotype as suggested by external review and checked with OMIM
Created: 31 Oct 2018, 12:37 p.m.
Comment on mode of inheritance: updated MOI as suggested by external reviewer
Created: 31 Oct 2018, 12:36 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are described in 4 out of 5 individuals reported with this neurodevelopment disorder.
Created: 20 Aug 2018, 6:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, MIM#617807

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807
OMIM
604198
Clinvar variants
Variants in RAB11B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to RAB11B.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to RAB11B.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are described in 4 ou

26 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rab11b has been classified as Green List (High Evidence).

26 Nov 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RAB11B were set to

26 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rab11b has been classified as Green List (High Evidence).

31 Oct 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

31 Oct 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: RAB11B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to RAB11B. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

RAB11B was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

RAB11B was created by Sarah Leigh