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Fetal anomalies

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

6 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Created: 10 Oct 2023, 3:39 p.m. | Last Modified: 10 Oct 2023, 3:39 p.m.
Panel Version: 3.111

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

Created: 10 Oct 2023, 3:39 p.m.
Last Modified: 10 Oct 2023, 3:39 p.m.
Panel version: 3.111

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
Created: 5 May 2023, 3 p.m.
Last Modified: 5 May 2023, 3 p.m.
Panel version: 3.8

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Confirmed with Stephanie Allen that the GMS Fetal expert group determined there is sufficient evidence to classify this gene as Green (9th May 2023).
Created: 10 May 2023, 10:42 a.m. | Last Modified: 10 May 2023, 10:42 a.m.
Panel Version: 3.79
The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.10
Created: 30 Jan 2023, 4:26 p.m.
Last Modified: 30 Jan 2023, 4:26 p.m.
Panel version: 2.10

Eleanor Williams (Genomics England Curator)

Comment on list classification: Leaving the rating as amber for now, but with a recommendation of GREEN rating following GMS expert review as to whether the brain anomaly/microcephaly phenotype observed in 5 individuals with missense variants in RAB11A is appropriate for this panel.
Created: 14 Aug 2022, 1:19 p.m. | Last Modified: 14 Aug 2022, 1:19 p.m.
Panel Version: 1.904
Comment on mode of pathogenicity: All missense variants but no functional data available.
Created: 14 Aug 2022, 1:15 p.m. | Last Modified: 14 Aug 2022, 1:15 p.m.
Panel Version: 1.902
PMID: 29100083 - Hamdan et al 2017 - performed WGS on 197 individuals with unexplained Developmental and epileptic encephalopathy and pharmaco-resistant seizures and in 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. For 3 of the 4 individuals there are brain MRI data which indicate brain abnormalities including partial agenesis of the corpus callosum, or thin corpus collosum.

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). Both are reported to have microcephaly (degree not stated) and brain anomalies (both with agenesis of corpus callosum, and one with additional abnormal cortical gyration, myelination abnormalites).
Created: 14 Aug 2022, 1:13 p.m. | Last Modified: 14 Aug 2022, 1:14 p.m.
Panel Version: 1.900
Created: 14 Aug 2022, 1:13 p.m.
Last Modified: 14 Aug 2022, 1:14 p.m.
Panel version: 1.900

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: 1.749

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: 1.749

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Epilepsy and intellectual disability
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • microcephaly, HP:0000252
  • brain anomalies
  • Intellectual disability, HP:0001249
Tags
gene-checked
OMIM
605570
Clinvar variants
Variants in RAB11A
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

10 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: RAB11A. Tag Q2_23_NHS_review was removed from gene: RAB11A.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to RAB11A. Source NHS GMS was added to RAB11A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

10 May 2023, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

10 May 2023, Gel status: 2

Removed Tag, Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag to_be_confirmed_NHSE was removed from gene: RAB11A. Tag Q3_22_rating was removed from gene: RAB11A. Tag Q3_22_expert_review was removed from gene: RAB11A.

5 May 2023, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: RAB11A. Tag Q2_23_NHS_review tag was added to gene: RAB11A.

7 Feb 2023, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

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

30 Jan 2023, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag to_be_confirmed_NHSE tag was added to gene: RAB11A.

14 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).

14 Aug 2022, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: RAB11A were changed from Epilepsy and intellectual disability to microcephaly, HP:0000252; brain anomalies; Intellectual disability, HP:0001249

14 Aug 2022, Gel status: 2

Set mode of pathogenicity

Eleanor Williams (Genomics England Curator)

Mode of pathogenicity for gene: RAB11A was changed from to Other

14 Aug 2022, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: RAB11A were set to

14 Aug 2022, Gel status: 2

Added Tag, Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: RAB11A. Tag Q3_22_expert_review tag was added to gene: RAB11A.

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: RAB11A was added gene: RAB11A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAB11A were set to Epilepsy and intellectual disability