Inherited white matter disorders
Gene: GJB1EnsemblGeneIds (GRCh38): ENSG00000169562
EnsemblGeneIds (GRCh37): ENSG00000169562
OMIM: 304040, Gene2Phenotype
GJB1 is in 7 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: This phenotype includes white matter abnormalities seen on MRI which resolve over timeCreated: 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
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.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800
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
Created
Sarah Leigh (Genomics England Curator)GJB1 was created by sleigh