GJB1

gap junction protein beta 1
OMIM: 304040
PanelMode of inheritanceDetails
3 panels
R-numbers: R78
Signed-off version 1.36
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Charcot-Marie-Tooth, X-linked, Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800
R-numbers: R62
Signed-off version 1.25
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1