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Severe Paediatric Disorders v0.17 | ACTA1 | Louise Daugherty Mode of inheritance for gene ACTA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | ACTA1 | Louise Daugherty reviewed gene: ACTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | ACTA1 | Louise Daugherty Publications for gene ACTA1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | ACTA1 | Louise Daugherty Added phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, 161800; Nemaline myopathy 3, autosomal dominant or recessive, 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Myopathy, actin, congenital, with cores, 161800 for gene: ACTA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ACTA1 | Louise Daugherty Added phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, 161800; Nemaline myopathy 3, autosomal dominant or recessive, 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Myopathy, actin, congenital, with cores, 161800 for gene: ACTA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ACTA1 | Louise Daugherty Added phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, 161800; Nemaline myopathy 3, autosomal dominant or recessive, 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Myopathy, actin, congenital, with cores, 161800 for gene: ACTA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | ACTA1 | Louise Daugherty Added phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Myopathy, actin, congenital, with cores, 161800; Nemaline myopathy 3, autosomal dominant or recessive, 161800 for gene: ACTA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | ACTA1 | Louise Daugherty Source Next Generation Children Project was added to ACTA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | ACTA1 |
Louise Daugherty Source Expert Review Green was added to ACTA1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | ACTA1 |
Louise Daugherty gene: ACTA1 was added gene: ACTA1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ACTA1 was set to |