Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Severe Paediatric Disorders

Gene: GJB2

Green List (high evidence)

GJB2 (gap junction protein beta 2)
EnsemblGeneIds (GRCh38): ENSG00000165474
EnsemblGeneIds (GRCh37): ENSG00000165474
OMIM: 121011, Gene2Phenotype
GJB2 is in 12 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GJB2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Bart-Pumphrey syndrome, 149200 (3) | Deafness, autosomal dominant 3A, 601544 (3) | Deafness, autosomal recessive 1A, 220290 (3) | Hystrix-like ichthyosis with deafness, 602540 (3) | Keratitis-ichthyosis-deafness syndrome, 148210 (3) | Keratoderma, palmoplantar, with deafness, 148350 (3) | Vohwinkel syndrome, 124500 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal recessive | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 1A, 220290
  • Keratoderma, palmoplantar, with deafness, 148350
  • Vohwinkel syndrome, 124500
  • Deafness, autosomal dominant 3A, 601544
  • Hystrix-like ichthyosis with deafness, 602540
  • Bart-Pumphrey syndrome, 149200
  • Keratitis-ichthyosis-deafness syndrome, 148210
OMIM
121011
Clinvar variants
Variants in GJB2
Penetrance
None
Publications
Panels with this gene