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Severe Paediatric Disorders v0.12 | TMEM43 | Louise Daugherty reviewed gene: TMEM43: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | TMEM43 | Louise Daugherty Publications for gene TMEM43 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | TMEM43 | Louise Daugherty Added phenotypes Arrhythmogenic right ventricular dysplasia 5, 604400; Emery-Dreifuss muscular dystrophy 7, AD, 614302 for gene: TMEM43 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | TMEM43 | Louise Daugherty Added phenotypes Arrhythmogenic right ventricular dysplasia 5, 604400; Emery-Dreifuss muscular dystrophy 7, AD, 614302 for gene: TMEM43 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | TMEM43 | Louise Daugherty Added phenotypes Arrhythmogenic right ventricular dysplasia 5, 604400; Emery-Dreifuss muscular dystrophy 7, AD, 614302 for gene: TMEM43 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | TMEM43 | Louise Daugherty Added phenotypes Arrhythmogenic right ventricular dysplasia 5, 604400; Emery-Dreifuss muscular dystrophy 7, AD, 614302 for gene: TMEM43 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | TMEM43 |
Louise Daugherty Mode of inheritance for gene TMEM43 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Arrhythmogenic right ventricular dysplasia 5, 604400; Emery-Dreifuss muscular dystrophy 7, AD, 614302 for gene: TMEM43 |
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Severe Paediatric Disorders v0.7 | TMEM43 | Louise Daugherty Source Next Generation Children Project was added to TMEM43. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | TMEM43 |
Louise Daugherty Source Expert Review Green was added to TMEM43. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | TMEM43 |
Louise Daugherty gene: TMEM43 was added gene: TMEM43 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TMEM43 was set to |