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| Rare genetic inflammatory skin disorders v2.3 | GJB4 | Arina Puzriakova Tag Q2_22_MOI was removed from gene: GJB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v2.3 | GJB4 | Arina Puzriakova commented on gene: GJB4: The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v2.2 | GJB4 | Arina Puzriakova Mode of inheritance for gene GJB4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.54 | GJB4 | Arina Puzriakova Mode of inheritance for gene: GJB4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v1.53 | GJB4 | Arina Puzriakova Tag Q2_22_MOI tag was added to gene: GJB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v1.18 | GJB4 | Ivone Leong Phenotypes for gene: GJB4 were changed from Erythrokeratodermia variabilis et progressiva 2; Erythrokeratodermia variabilis to Erythrokeratodermia variabilis et progressiva 2, OMIM:617524 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.22 | GJB4 |
Catherine Snow Added phenotypes Erythrokeratodermia variabilis et progressiva 2 for gene: GJB4 Publications for gene GJB4 were changed from to 12648223 |
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| Rare genetic inflammatory skin disorders v0.21 | GJB4 | Tom Cullup reviewed gene: GJB4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12648223; Phenotypes: Erythrokeratodermia variabilis et progressiva 2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.5 | GJB4 | Rebecca Foulger Source London North GLH was added to GJB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.4 | GJB4 | Rebecca Foulger reviewed gene: GJB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.3 | GJB4 |
Rebecca Foulger gene: GJB4 was added gene: GJB4 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GJB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJB4 were set to Erythrokeratodermia variabilis |
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