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Severe Paediatric Disorders v0.17 GJB1 Louise Daugherty Mode of inheritance for gene GJB1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.12 GJB1 Louise Daugherty reviewed gene: GJB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 GJB1 Louise Daugherty Publications for gene GJB1 were updated from to 30847515
Severe Paediatric Disorders v0.10 GJB1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 for gene: GJB1
Severe Paediatric Disorders v0.9 GJB1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 for gene: GJB1
Severe Paediatric Disorders v0.9 GJB1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 for gene: GJB1
Severe Paediatric Disorders v0.8 GJB1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 for gene: GJB1
Severe Paediatric Disorders v0.7 GJB1 Louise Daugherty Source Next Generation Children Project was added to GJB1.
Severe Paediatric Disorders v0.5 GJB1 Louise Daugherty Source Expert Review Green was added to GJB1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 GJB1 Louise Daugherty gene: GJB1 was added
gene: GJB1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GJB1 was set to