Structural basal ganglia disorders

Gene: RAB39B

Green List (high evidence)

RAB39B (RAB39B, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000155961
EnsemblGeneIds (GRCh37): ENSG00000155961
OMIM: 300774, Gene2Phenotype
RAB39B is in 10 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.

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)

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

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

6 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Mar 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for RAB39B were set to Waisman syndrome 311510

6 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Mar 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for RAB39B were set to 25434005; 26399558; 27448726; 27943471; 27838047

7 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

RAB39B was created by sleigh

7 Sep 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

RAB39B was added to Structural basal ganglia disorderspanel. Sources: Emory Genetics Laboratory