Genomics England
GMS Panels
Panels
Genes and Entities

GJB1

gap junction protein beta 1
OMIM: 304040
PanelMode of inheritanceDetails
3 panels
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 4.11
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
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
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