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  2. Adult onset dystonia, chorea or related movement disorder
  3. RAB39B
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Adult onset dystonia, chorea or related movement disorder

Gene: RAB39B

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is also associated with Mental retardation, X-linked 72, OMIM:300271
Created: 29 Mar 2021, 3:02 p.m. | Last Modified: 29 Mar 2021, 3:02 p.m.
Panel Version: 1.79
Created: 29 Mar 2021, 3:02 p.m.
Last Modified: 29 Mar 2021, 3:02 p.m.
Panel version: 1.79

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Created: 23 Apr 2019, 1:19 p.m.

Panel version: 0.54

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 23 Apr 2019, 1:13 p.m.

Panel version: 0.53

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Waisman syndrome, OMIM:311510
OMIM
300774
Clinvar variants
Variants in RAB39B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RAB39B were changed from Waisman syndrome 311510; early-onset parkinsonism and intellectual disability to Waisman syndrome, OMIM:311510

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RAB39B.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to RAB39B.

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: RAB39B was added gene: RAB39B was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: RAB39B were set to 27838047; 27459931; 27066548; 26399558; 2639955; 27448726; 27943471; 25434005; 27694831 Phenotypes for gene: RAB39B were set to Waisman syndrome 311510; early-onset parkinsonism and intellectual disability