Cerebellar and Pontocerebellar Hypoplasia
Gene: RAB11BEnsemblGeneIds (GRCh38): ENSG00000185236
EnsemblGeneIds (GRCh37): ENSG00000185236
OMIM: 604198, Gene2Phenotype
RAB11B is in 6 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
Minimal reports to date. Borderline amber/green, pending additional publications.
Lamers 2017: Reported 5 individuals (2 recurrent de novo variants, A22M & A68T). Cerebellar vermis hypoplasia observed in 3 individuals, the other 2 showed decreased width of the cerebellar vermis.
Decipher: 4 individuals reported, no evidence of cerebellar hypoplasia.
Gene not in PanelApp UK/RMH list.Created: 27 Apr 2020, 6:23 a.m. | Last Modified: 27 Apr 2020, 6:23 a.m.
Panel Version: 0.68
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807)
- OMIM
- 604198
- Clinvar variants
- Variants in RAB11B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rab11b has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RAB11B were changed from to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RAB11B were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: RAB11B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rab11b has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RAB11B was added gene: RAB11B was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAB11B was set to Unknown