Inherited white matter disorders

Gene: GJB1

Green List (high evidence)

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

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This phenotype includes white matter abnormalities seen on MRI which resolve over time
Created: 1 Sep 2016, 8:40 a.m.
Associated with phenotype in OMIM, not in G2P / DD. Numerous variants reported, included in Update on Leukodystrophies: A Historical Perspective and Adapted Definition (PMID 27564080).
Created: 1 Sep 2016, 8:39 a.m.

Mode of inheritance
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 302800

Publications

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
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800
OMIM
304040
Clinvar variants
Variants in GJB1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

1 Sep 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800

1 Sep 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

GJB1 was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

1 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GJB1 was created by sleigh