Dystonia - childhood onset

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

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History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: RAB39B was added gene: RAB39B was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RAB39B were set to 27838047; 27448726; 27943471; 25434005; 26399558 Phenotypes for gene: RAB39B were set to Waisman syndrome 311510