| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Rare genetic inflammatory skin disorders v1.54 | GJB4 | Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'both monoallelic and biallelic' to just 'monoallelic' as the literature only reports heterozygous (monoallelic) variants associated with EKVP. Rare biallelic forms of EKVP have so far only been reported for GJB3 (OMIM:133200). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v1.17 | GJB3 | Ivone Leong Phenotypes for gene: GJB3 were changed from Erythrokeratodermia variabilis et progressiva 1; Erythrokeratodermia variabilis to Erythrokeratodermia variabilis et progressiva 1, OMIM:133200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.22 | GJB3 |
Catherine Snow Added phenotypes Erythrokeratodermia variabilis et progressiva 1 for gene: GJB3 Publications for gene GJB3 were changed from to 10798362 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.21 | GJB3 | Tom Cullup reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 10798362; Phenotypes: Erythrokeratodermia variabilis et progressiva 1; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.5 | GJB3 | Rebecca Foulger Source London North GLH was added to GJB3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.4 | GJB3 | Rebecca Foulger reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.3 | GJB3 |
Rebecca Foulger gene: GJB3 was added gene: GJB3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJB3 were set to Erythrokeratodermia variabilis |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||