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Severe Paediatric Disorders v0.12 | MUSK | Louise Daugherty reviewed gene: MUSK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | MUSK | Louise Daugherty Publications for gene MUSK were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | MUSK | Louise Daugherty Mode of inheritance for gene MUSK was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | MUSK | Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 1, 208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 for gene: MUSK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MUSK | Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 1, 208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 for gene: MUSK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MUSK | Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 1, 208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 for gene: MUSK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | MUSK | Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325; Fetal akinesia deformation sequence 1, 208150 for gene: MUSK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | MUSK | Louise Daugherty Source Next Generation Children Project was added to MUSK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | MUSK |
Louise Daugherty Source Expert Review Green was added to MUSK. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | MUSK |
Louise Daugherty gene: MUSK was added gene: MUSK was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MUSK was set to |