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| Severe Paediatric Disorders v0.17 | ACTL6B | Louise Daugherty Mode of inheritance for gene ACTL6B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | ACTL6B | Louise Daugherty reviewed gene: ACTL6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | ACTL6B | Louise Daugherty Publications for gene ACTL6B were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | ACTL6B | Louise Daugherty Added phenotypes Intellectual developmental disorder with severe speech and ambulation defects, 618470; Epileptic encephalopathy, early infantile, 76, 618468 for gene: ACTL6B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | ACTL6B | Louise Daugherty Added phenotypes Intellectual developmental disorder with severe speech and ambulation defects, 618470; Epileptic encephalopathy, early infantile, 76, 618468 for gene: ACTL6B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | ACTL6B | Louise Daugherty Added phenotypes Intellectual developmental disorder with severe speech and ambulation defects, 618470; Epileptic encephalopathy, early infantile, 76, 618468 for gene: ACTL6B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | ACTL6B | Louise Daugherty Added phenotypes Intellectual developmental disorder with severe speech and ambulation defects, 618470; Epileptic encephalopathy, early infantile, 76, 618468 for gene: ACTL6B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | ACTL6B | Louise Daugherty Source Next Generation Children Project was added to ACTL6B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | ACTL6B |
Louise Daugherty Source Expert Review Green was added to ACTL6B. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | ACTL6B |
Louise Daugherty gene: ACTL6B was added gene: ACTL6B was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ACTL6B was set to |
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