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White matter disorders and cerebral calcification - narrow panel

Gene: RAB11B

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update
Created: 26 May 2021, 3:39 p.m. | Last Modified: 26 May 2021, 3:39 p.m.
Panel Version: 1.122
Lamers et al. (2017) PMID:29106825 reported five unrelated individuals with two recurrent de novo missense variants in RAB11B; c.64G>A; p.Val22Met in three individuals and c.202G>A; p.Ala68Thr in two individuals. An overlapping neurodevelopmental phenotype, including severe intellectual disability with absent speech, epilepsy, and hypotonia was observed in all affected individuals. Severely decreased white matter volume (cerebral cortex more severely affected than cerebellum) was evident in 4 individuals for whom brain MRI images were available.
Created: 26 May 2021, 3:36 p.m. | Last Modified: 26 May 2021, 3:36 p.m.
Panel Version: 1.121

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

5 unrelated cases with de novo variants and brain imaging, performed in 4 patients, showed white matter abnormalities.
Created: 16 Sep 2020, 4:20 a.m. | Last Modified: 16 Sep 2020, 4:20 a.m.
Panel Version: 1.14

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

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 Amber
Phenotypes
  • Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807
Tags
Q2_21_rating
OMIM
604198
Clinvar variants
Variants in RAB11B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 May 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: rab11b has been classified as Amber List (Moderate Evidence).

26 May 2021, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: RAB11B.

26 May 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: RAB11B was added gene: RAB11B was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB11B were set to 29106825 Phenotypes for gene: RAB11B were set to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, MIM#617807