Ichthyosis and erythrokeratoderma
Gene: GJB3Comment on phenotypes: Previous phenotypes:
Erythrokeratoderma;deafness;Erythrokeratodermia variabilis et progressiva, 133200;peripheral neuropathy;Erythrokeratodermia VariabilisCreated: 23 Mar 2021, 2:30 p.m. | Last Modified: 23 Mar 2021, 2:30 p.m.
Panel Version: 1.28
Comment 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.
Phenotypes for gene: GJB3 were changed from Erythrokeratoderma; deafness; Erythrokeratodermia variabilis et progressiva, 133200; peripheral neuropathy; Erythrokeratodermia Variabilis to Erythrokeratodermia variabilis et progressiva, OMIM:133200
gene: GJB3 was added gene: GJB3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GJB3 were set to 12019212; 9843209; 21564177; 10594760 Phenotypes for gene: GJB3 were set to Erythrokeratoderma; deafness; Erythrokeratodermia variabilis et progressiva, 133200; peripheral neuropathy; Erythrokeratodermia Variabilis