White matter disorders and cerebral calcification - narrow panel
Gene: RAB11BEnsemblGeneIds (GRCh38): ENSG00000185236
EnsemblGeneIds (GRCh37): ENSG00000185236
OMIM: 604198, Gene2Phenotype
RAB11B is in 6 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Arina Puzriakova (Genomics England Curator)
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel updateCreated: 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)
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 Green
- NHS GMS
- Phenotypes
-
- Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807
- OMIM
- 604198
- Clinvar variants
- Variants in RAB11B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating was removed from gene: RAB11B.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to RAB11B. Source Expert Review Green was added to RAB11B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: rab11b has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_rating tag was added to gene: RAB11B.
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
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
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