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  3. GJB2
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BRIDGE_SPEED_NEURO_20170705

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

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_UKGTN_v12 . Main mutation mechanism : All missense/in frame; Loss of function
Created: 28 Jul 2017, 9:12 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Mode of pathogenicity

Created: 2 Aug 2017, 3:38 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, noon
Created: 31 Jul 2017, noon

Panel version: 0.68

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 1A, 220290
  • Deafness, autosomal dominant 3A, 601544
  • Vohwinkel syndrome, 124500
  • Keratoderma, palmoplantar, with deafness, 148350
  • Keratitis-ichthyosis-deafness syndrome, 148210
  • Hystrix-like ichthyosis with deafness, 602540
  • Bart-Pumphrey syndrome, 149200
OMIM
121011
Clinvar variants
Variants in GJB2
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GJB2 were set to Deafness, autosomal recessive 1A, 220290; Deafness, autosomal dominant 3A, 601544; Vohwinkel syndrome, 124500; Keratoderma, palmoplantar, with deafness, 148350; Keratitis-ichthyosis-deafness syndrome, 148210; Hystrix-like ichthyosis with deafness, 602540; Bart-Pumphrey syndrome, 149200

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GJB2 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

GJB2 was created by LouiseD