Structural basal ganglia disorders
Gene: RAB39B

RAB39B (RAB39B, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000155961
EnsemblGeneIds (GRCh37): ENSG00000155961
OMIM: 300774, Gene2Phenotype
RAB39B is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P (RAB39B is a confirmed G2P gene for Mental retardation, X-linked 72 mim 300271). At least 4 variants reported
Created: 6 Mar 2017, 11:21 a.m.

Comment on phenotypes: Variants also associated with Mental retardation, X-linked 72 300271
Created: 6 Mar 2017, 11:18 a.m.

Created: 6 Mar 2017, 11:18 a.m.

Panel version: 0.114

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Few families only?
Created: 1 Mar 2017, 3:18 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Created: 1 Mar 2017, 3:18 p.m.

Panel version: 0.5

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Emory Genetics Laboratory

Phenotypes

Waisman syndrome 311510

OMIM

300774

Clinvar variants

Variants in RAB39B

Penetrance

Complete

Publications

Panels with this gene