Genomics England
GMS Panels
Panels
Genes and Entities

RAB39B

RAB39B, member RAS oncogene family
OMIM: 300774
PanelMode of inheritanceDetails
4 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Waisman syndrome, OMIM:311510
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 5.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Waisman syndrome 311510
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS 300271
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intellectual developmental disorder, X-linked 72, OMIM:300271, Waisman syndrome, OMIM:311510