Genes in panel

Hereditary neuropathy

Gene: GJB1

Green List (high evidence)

GJB1 (gap junction protein beta 1)
EnsemblGeneIds (GRCh38): ENSG00000169562
EnsemblGeneIds (GRCh37): ENSG00000169562
OMIM: 304040, Gene2Phenotype
GJB1 is in 8 panels

8 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

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 disease
Created: 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

Louise Daugherty (Genomics England Curator)

I don't know

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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

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

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

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

Mary Reilly (Institute of Neurology)

Green List (high evidence)

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

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

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.

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

History Filter Activity

29 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to GJB1.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GJB1.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to GJB1. Rating Changed from Green List (high evidence) to Green List (high evidence)

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Eligibility statement prior genetic testing

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GJB1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GJB1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GJB1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GJB1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GJB1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GJB1 was changed to Unknown

20 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GJB1 was changed to Unknown

20 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

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

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GJB1 was changed to Unknown

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GJB1 was changed to Unknown

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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