RAB39B

RAB39B, member RAS oncogene family
OMIM: 300774
PanelMode of inheritanceDetails
4 panels
R-numbers: R56
Signed-off version 1.121
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
R-numbers: R57
Signed-off version 1.137
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 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS 300271
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked 72, 300271, Mental Retardation, X-linked, MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS