Activity

Filter

Cancel
Date Panel Item Activity
14 actions
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)
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