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| Severe Paediatric Disorders v0.12 | SLC2A10 | Louise Daugherty reviewed gene: SLC2A10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | SLC2A1 | Louise Daugherty reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | SLC2A10 | Louise Daugherty Publications for gene SLC2A10 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | SLC2A1 | Louise Daugherty Publications for gene SLC2A1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | SLC2A10 | Louise Daugherty Added phenotypes Arterial tortuosity syndrome, 208050 for gene: SLC2A10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | SLC2A1 | Louise Daugherty Added phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 deficiency syndrome 2, childhood onset, 612126; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SLC2A10 | Louise Daugherty Added phenotypes Arterial tortuosity syndrome, 208050 for gene: SLC2A10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SLC2A1 | Louise Daugherty Added phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 deficiency syndrome 2, childhood onset, 612126; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SLC2A10 | Louise Daugherty Added phenotypes Arterial tortuosity syndrome, 208050 for gene: SLC2A10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SLC2A1 | Louise Daugherty Added phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 deficiency syndrome 2, childhood onset, 612126; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SLC2A10 | Louise Daugherty Added phenotypes Arterial tortuosity syndrome, 208050 for gene: SLC2A10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SLC2A1 | Louise Daugherty Added phenotypes Dystonia 9, 601042; GLUT1 deficiency syndrome 2, childhood onset, 612126; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SLC2A10 |
Louise Daugherty Mode of inheritance for gene SLC2A10 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Arterial tortuosity syndrome, 208050 for gene: SLC2A10 |
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| Severe Paediatric Disorders v0.8 | SLC2A1 |
Louise Daugherty Mode of inheritance for gene SLC2A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 deficiency syndrome 2, childhood onset, 612126; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1 |
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| Severe Paediatric Disorders v0.7 | SLC2A10 | Louise Daugherty Source Next Generation Children Project was added to SLC2A10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | SLC2A1 | Louise Daugherty Source Next Generation Children Project was added to SLC2A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | SLC2A10 |
Louise Daugherty Source Expert Review Green was added to SLC2A10. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.5 | SLC2A1 |
Louise Daugherty Source Expert Review Green was added to SLC2A1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | SLC2A10 |
Louise Daugherty gene: SLC2A10 was added gene: SLC2A10 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC2A10 was set to |
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| Severe Paediatric Disorders v0.4 | SLC2A1 |
Louise Daugherty gene: SLC2A1 was added gene: SLC2A1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC2A1 was set to |
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