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| Severe Paediatric Disorders v0.17 | ARX | Louise Daugherty Mode of inheritance for gene ARX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | ARX | Louise Daugherty reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | ARX | Louise Daugherty Publications for gene ARX were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | ARX | Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 1, 308350; Partington syndrome, 309510; Lissencephaly, X-linked 2, 300215; Proud syndrome, 300004; Hydranencephaly with abnormal genitalia, 300215; Mental retardation, X-linked 29 and others, 300419 for gene: ARX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | ARX | Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 1, 308350; Partington syndrome, 309510; Lissencephaly, X-linked 2, 300215; Proud syndrome, 300004; Hydranencephaly with abnormal genitalia, 300215; Mental retardation, X-linked 29 and others, 300419 for gene: ARX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | ARX | Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 1, 308350; Partington syndrome, 309510; Lissencephaly, X-linked 2, 300215; Proud syndrome, 300004; Hydranencephaly with abnormal genitalia, 300215; Mental retardation, X-linked 29 and others, 300419 for gene: ARX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | ARX | Louise Daugherty Added phenotypes Hydranencephaly with abnormal genitalia, 300215; Epileptic encephalopathy, early infantile, 1, 308350; Partington syndrome, 309510; Proud syndrome, 300004; Mental retardation, X-linked 29 and others, 300419; Lissencephaly, X-linked 2, 300215 for gene: ARX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | ARX | Louise Daugherty Source Next Generation Children Project was added to ARX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | ARX |
Louise Daugherty Source Expert Review Green was added to ARX. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | ARX |
Louise Daugherty gene: ARX was added gene: ARX was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ARX was set to |
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