Palmoplantar keratoderma and erythrokeratodermas
Gene: GJB3Comment on list classification: Updated rating from Amber to Green: Although the reviewer did not leave a rating for GJB3, other comments were left suggesting that it is a suitable gene for the panel. >3 unrelated cases to support causation of relevant phenotype.Created: 23 Mar 2017, 10:32 a.m.
Comment on list classification: Updated rating from Red to Amber ready for External review. Confirmed DD gene, and >3 cases of GJB3 variants linked to EKVP (OMIM:133200).Created: 10 Jan 2017, 3:36 p.m.
Comment on mode of inheritance: Mode of inheritance sourced from OMIM: both monoallelic and biallelic mutations in GJB3 are recorded for 'Erythrokeratodermia variabilis et progressiva' (OMIM:133200). Biallelic (AR) mutations are reported in Gottfried et al., 2002 (PMID:12019212) and Fuchs-Telem et al, 2011 (PMID:21564177).Created: 9 Jan 2017, 11:45 a.m.
Comment on publications: PMID:21564177 reports an autosomal recessive GJB3 mutation (c.G88A leading to a V30I substitution) causing Erythrokeratoderma variabilis (EKVP).Created: 9 Jan 2017, 11:44 a.m.
GJB3 is a confirmed DD gene for 'Erythrokeratodermia variabilis et progressiva' (OMIM:133200).Created: 9 Jan 2017, 11:30 a.m.
Gottfried et al. (2002, PMID:12019212) identified 3 Israeli siblings with an autosomal recessive (AR) migratory form of erythrokeratodermia variabilis et progressiva (EKVP; 133200) who were homozygous for a 101T-C transition in GJB3.Created: 9 Jan 2017, 11:29 a.m.
Wigloss et al., (1999, PMID: 10594760) identified an R42P mutation in the GJB3 gene in a family with EKVP (OMIM:133200). Richard et al., 2000 (PMID:10798362) found the same heterozygous mutation as the cause of EKV in another family.
Created: 9 Jan 2017, 11:28 a.m.
Richard et al., (1998, PMID:9843209) identified heterozygous missense mutations in GJB3 in four EKV families leading to substitution of a conserved glycine by charged residues (G12R and G12D), or change of a cysteine (C86S).
Created: 9 Jan 2017, 11:27 a.m.
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for GJB3 were set to Erythrokeratodermia variabilis et progressiva, 133200; Erythrokeratodermia Variabilis; Erythrokeratoderma; deafness; peripheral neuropathy
Publications for GJB3 were set to 21564177; 12019212; 9843209; 10594760
This gene has been classified as Amber List (Moderate Evidence).
Publications for GJB3 were set to 21564177
Mode of inheritance for GJB3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
GJB3 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Radboud University Medical Center, Nijmegen
GJB3 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other
GJB3 was created by rfoulger