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Research panel - 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 11 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
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

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene GJB2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene GJB2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: GJB2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: GJB2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: GJB2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Deafness, autosomal dominant 3A, 601544; Keratoderma, palmoplantar, with deafness, 148350; Keratitis-ichthyosis-deafness syndrome, 148210; Deafness, autosomal recessive 1A, 220290; Vohwinkel syndrome, 124500; Bart-Pumphrey syndrome, 149200; Hystrix-like ichthyosis with deafness, 602540 for gene: GJB2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to GJB2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to GJB2. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GJB2 was added gene: GJB2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: GJB2 was set to