Ichthyosis and erythrokeratoderma
Gene: GJB4
Lots of literature on GJB4 as a causative gene in EKVCreated: 14 Mar 2017, 7:17 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythrokeratoderma variabilis
Comment on phenotypes: Removed 'Erythrokeratodermia variabilis with erythema gyratum repens,133200' as a phenotype since a June 2017 OMIM update now associates GJB4 with 'Erythrokeratodermia variabilis et progressiva 2, 617524'.Created: 15 Aug 2017, 2:19 p.m.
Comment when marking as ready: Discussed with Helen Brittain, who agrees with Green rating and monoallelic MOI (cases reported for GJB4 are heterozygous).Created: 3 Apr 2017, 9:12 a.m.
Comment on list classification: Updated rating from Amber to green: 1 green review plus >3 cases supporting causation for 'Erythrokeratodermia variabilis et progressiva'.Created: 16 Mar 2017, 4:29 p.m.
Although GJB4 is not a confirmed DD gene for EKVP (OMIM:133200) >3 GJB4 cases listed in OMIM for 'Erythrokeratodermia variabilis et progressiva (OMIM:133200)' and plenty of literature recording GJB4 causative variants for OMIM:133200.Created: 16 Mar 2017, 4:07 p.m.
Comment on list classification: Updated rating from Red to Amber ready for External review: >3 cases linking GJB4 to EKVP (OMIM:133200).Created: 10 Jan 2017, 3:39 p.m.
Comment on mode of inheritance: Updated mode of inheritance from 'Both monoallelic and biallelic' to just monoallelic. Although OMIM report both biallelic and monoallelic causes of EKVP (OMIM:133200) for GJA1, GJB3 and GJB4, for GJB4 the literature reports heterozygous (monoallelic) mutations. Rare biallelic forms of EKVP (OMIM:133200) have so far just been reported for GJB3.Created: 10 Jan 2017, 3:38 p.m.
Comment on mode of inheritance: Mode of inheritance sourced from OMIM: Both monoallelic and biallelic mutations in GJB4 are recorded for Erythrokeratodermia variabilis with erythema gyratum repens' (OMIM:133200).Created: 5 Jan 2017, 1:20 p.m.
Phenotypes for gene: GJB4 were changed from Erythrokeratodermia variabilis et progressiva 2, 617524 to Erythrokeratodermia variabilis et progressiva 2, OMIM:617524
gene: GJB4 was added gene: GJB4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: GJB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GJB4 were set to 22266302; 21950330; 26826093; 23037955 Phenotypes for gene: GJB4 were set to Erythrokeratodermia variabilis et progressiva 2, 617524