Hereditary neuropathy
Gene: GJB1
Multiple C5s in Bristol. Also well established from looking at HGMD. PMID: 8266101 - early paper identified 7 different mutations in affected persons from 8 families with X-linked dominant Charcot-Marie-Tooth diseaseCreated: 29 Apr 2019, 12:30 p.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 ; Charcot-Marie-Tooth, X-linked
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Sequencing should also cover at least 600 bp upstream of START site (ChrX(GRCh37):g.70442959_70443558) to capture non-coding/promoter mutations, accounting for >10% of GJB1 mutations (PMID 28283593)Created: 29 Apr 2019, 9:20 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Is on the Charcot-Marie- Tooth disease type 2 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 1:04 p.m.
Is on the Charcot-Marie- Tooth disease type 1 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 12:57 p.m.
Added phenotypes Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800; Charcot-Marie-Tooth, X-linked for gene: GJB1 Publications for gene GJB1 were changed from to 8266101
Source South West GLH was added to GJB1.
Source NHS GMS was added to GJB1.
Source London North GLH was added to GJB1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
GJB1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene GJB1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene GJB1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene GJB1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene GJB1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene GJB1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene GJB1 was changed to Unknown
GJB1 was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene GJB1 was changed to Unknown
GJB1 was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene GJB1 was changed to Unknown
GJB1 was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene GJB1 was changed to Unknown
GJB1 was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
GJB1 was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory