Inherited white matter disordersGene: GJB1
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)
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Phenotypes for GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800
GJB1 was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
GJB1 was created by sleigh