White matter disorders and cerebral calcification - narrow panel
Gene: GJB1

GJB1 (gap junction protein beta 1)
EnsemblGeneIds (GRCh38): ENSG00000169562
EnsemblGeneIds (GRCh37): ENSG00000169562
OMIM: 304040, Gene2Phenotype
GJB1 is in 7 panels

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Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green

Phenotypes

Charcot-Marie-Tooth neuropathy, X-linked dominant, 1

OMIM

304040

Clinvar variants

Variants in GJB1

Penetrance

None

Panels with this gene

History Filter Activity

8 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 Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GJB1 was added gene: GJB1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1