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Severe Paediatric Disorders v0.17 | GJB2 | Louise Daugherty Mode of inheritance for gene GJB2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | GJB2 | Louise Daugherty reviewed gene: GJB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | GJB2 | Louise Daugherty Publications for gene GJB2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | GJB3 | Louise Daugherty Added phenotypes Deafness, autosomal dominant, with peripheral neuropathy; Deafness, autosomal recessive; Deafness, digenic, GJB2/GJB3, 220290; Erythrokeratodermia variabilis et progressiva 1, 133200; Deafness, autosomal dominant 2B, 612644 for gene: GJB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | GJB2 | Louise Daugherty Added phenotypes Deafness, autosomal recessive 1A, 220290; Keratoderma, palmoplantar, with deafness, 148350; Vohwinkel syndrome, 124500; Deafness, autosomal dominant 3A, 601544; Hystrix-like ichthyosis with deafness, 602540; Bart-Pumphrey syndrome, 149200; Keratitis-ichthyosis-deafness syndrome, 148210 for gene: GJB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | GJB3 | Louise Daugherty Added phenotypes Deafness, autosomal dominant, with peripheral neuropathy; Deafness, autosomal recessive; Deafness, digenic, GJB2/GJB3, 220290; Erythrokeratodermia variabilis et progressiva 1, 133200; Deafness, autosomal dominant 2B, 612644 for gene: GJB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | GJB2 | Louise Daugherty Added phenotypes Deafness, autosomal recessive 1A, 220290; Keratoderma, palmoplantar, with deafness, 148350; Vohwinkel syndrome, 124500; Deafness, autosomal dominant 3A, 601544; Hystrix-like ichthyosis with deafness, 602540; Bart-Pumphrey syndrome, 149200; Keratitis-ichthyosis-deafness syndrome, 148210 for gene: GJB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | GJB3 | Louise Daugherty Added phenotypes Deafness, autosomal dominant, with peripheral neuropathy; Deafness, autosomal recessive; Deafness, digenic, GJB2/GJB3, 220290; Erythrokeratodermia variabilis et progressiva 1, 133200; Deafness, autosomal dominant 2B, 612644 for gene: GJB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | GJB2 | Louise Daugherty Added phenotypes Deafness, autosomal recessive 1A, 220290; Keratoderma, palmoplantar, with deafness, 148350; Vohwinkel syndrome, 124500; Deafness, autosomal dominant 3A, 601544; Hystrix-like ichthyosis with deafness, 602540; Bart-Pumphrey syndrome, 149200; Keratitis-ichthyosis-deafness syndrome, 148210 for gene: GJB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | GJB3 | Louise Daugherty Added phenotypes Erythrokeratodermia variabilis et progressiva 1, 133200; Deafness, autosomal recessive; Deafness, autosomal dominant, with peripheral neuropathy; Deafness, autosomal dominant 2B, 612644; Deafness, digenic, GJB2/GJB3, 220290 for gene: GJB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | GJB2 | Louise Daugherty Added phenotypes Deafness, autosomal dominant 3A, 601544; Keratoderma, palmoplantar, with deafness, 148350; Keratitis-ichthyosis-deafness syndrome, 148210; Deafness, autosomal recessive 1A, 220290; Vohwinkel syndrome, 124500; Bart-Pumphrey syndrome, 149200; Hystrix-like ichthyosis with deafness, 602540 for gene: GJB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | GJB2 | Louise Daugherty Source Next Generation Children Project was added to GJB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | GJB2 |
Louise Daugherty Source Expert Review Green was added to GJB2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | GJB2 |
Louise Daugherty gene: GJB2 was added gene: GJB2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: GJB2 was set to |