Hereditary Neuropathy - complex
Gene: GJB3

GJB3 (gap junction protein beta 3)
EnsemblGeneIds (GRCh38): ENSG00000188910
EnsemblGeneIds (GRCh37): ENSG00000188910
OMIM: 603324, Gene2Phenotype
GJB3 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

The in-frame deletion reported to segregate in a single family with neuropathy and deafness (Asp66del) has an allele frequency of 0.0003951 in Latinos (global AC is 37/282,766 alleles) in gnomAD v2.1. In vitro functional assays assessing Asp66del were similar to wild-type in most assays testing different protein functions. No other variants have been reported with neuropathy.
Created: 23 Mar 2020, 4:25 a.m. | Last Modified: 23 Mar 2020, 4:25 a.m.

Panel Version: 0.13

Publications

Created: 23 Mar 2020, 4:25 a.m.
Last Modified: 23 Mar 2020, 4:25 a.m.
Panel version: 0.13

Details

Sources

Expert Review Red
Royal Melbourne Hospital

Phenotypes

HMSN
erythrokeratodermia variabilis, hearing impairment and peripheral neuropathy

OMIM

603324

Clinvar variants

Variants in GJB3

Penetrance

None

Panels with this gene

History Filter Activity

23 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gjb3 has been classified as Red List (Low Evidence).

13 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GJB3 was added gene: GJB3 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: GJB3 was set to Phenotypes for gene: GJB3 were set to HMSN; erythrokeratodermia variabilis, hearing impairment and peripheral neuropathy

Hereditary Neuropathy - complex Gene: GJB3