Fetal anomalies
Gene: RAB11B

RAB11B (RAB11B, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000185236
EnsemblGeneIds (GRCh37): ENSG00000185236
OMIM: 604198, Gene2Phenotype
RAB11B is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem.

5 unrelated families reported.
Created: 29 May 2021, 10:49 a.m. | Last Modified: 29 May 2021, 10:49 a.m.

Panel Version: 0.3792

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

29106825

Created: 29 May 2021, 10:49 a.m.
Last Modified: 29 May 2021, 10:49 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3792

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland

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

29106825

Panels with this gene