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| Severe Paediatric Disorders v0.17 | HK1 | Louise Daugherty Mode of inheritance for gene HK1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | HK1 | Louise Daugherty reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | HK1 | Louise Daugherty Publications for gene HK1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | HK1 | Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, Russe type, 605285; Retinitis pigmentosa 79, 617460; Hemolytic anemia due to hexokinase deficiency, 235700; Neurodevelopmental disorder with visual defects and brain anomalies, 618547 for gene: HK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | HK1 | Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, Russe type, 605285; Retinitis pigmentosa 79, 617460; Hemolytic anemia due to hexokinase deficiency, 235700; Neurodevelopmental disorder with visual defects and brain anomalies, 618547 for gene: HK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | HK1 | Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, Russe type, 605285; Retinitis pigmentosa 79, 617460; Hemolytic anemia due to hexokinase deficiency, 235700; Neurodevelopmental disorder with visual defects and brain anomalies, 618547 for gene: HK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | HK1 | Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, Russe type, 605285; Neurodevelopmental disorder with visual defects and brain anomalies, 618547; Hemolytic anemia due to hexokinase deficiency, 235700; Retinitis pigmentosa 79, 617460 for gene: HK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | HK1 | Louise Daugherty Source Next Generation Children Project was added to HK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | HK1 |
Louise Daugherty Source Expert Review Green was added to HK1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | HK1 |
Louise Daugherty gene: HK1 was added gene: HK1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: HK1 was set to |
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