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Severe Paediatric Disorders v0.17 | DYNC1H1 | Louise Daugherty Mode of inheritance for gene DYNC1H1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | DYNC1H1 | Louise Daugherty reviewed gene: DYNC1H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | DYNC1H1 | Louise Daugherty Publications for gene DYNC1H1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | DYNC1H1 | Louise Daugherty Added phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Charcot-Marie-Tooth disease, axonal, type 20, 614228 for gene: DYNC1H1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | DYNC1H1 | Louise Daugherty Added phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Charcot-Marie-Tooth disease, axonal, type 20, 614228 for gene: DYNC1H1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | DYNC1H1 | Louise Daugherty Added phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Charcot-Marie-Tooth disease, axonal, type 20, 614228 for gene: DYNC1H1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | DYNC1H1 | Louise Daugherty Added phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Charcot-Marie-Tooth disease, axonal, type 20, 614228 for gene: DYNC1H1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | DYNC1H1 | Louise Daugherty Source Next Generation Children Project was added to DYNC1H1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | DYNC1H1 |
Louise Daugherty Source Expert Review Green was added to DYNC1H1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | DYNC1H1 |
Louise Daugherty gene: DYNC1H1 was added gene: DYNC1H1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: DYNC1H1 was set to |