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  3. RAB39B
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Childhood 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

1 review

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

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • PanelApp
  • Expert Review Green
  • London North GLH
Phenotypes
  • Waisman syndrome 311510
OMIM
300774
Clinvar variants
Variants in RAB39B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to RAB39B. Mode of inheritance for gene RAB39B was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Waisman syndrome 311510 for gene: RAB39B Publications for gene RAB39B were changed from to 27448726; 26399558; 27838047; 25434005; 27943471

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: RAB39B was added gene: RAB39B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: RAB39B was set to