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| Severe Paediatric Disorders v0.12 | TWIST1 | Louise Daugherty reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | TWIST1 | Louise Daugherty Publications for gene TWIST1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | TWIST1 | Louise Daugherty Added phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, 101400; Sweeney-Cox syndrome, 617746; Robinow-Sorauf syndrome, 180750; Craniosynostosis 1, 123100 for gene: TWIST1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | TWIST1 | Louise Daugherty Added phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, 101400; Sweeney-Cox syndrome, 617746; Robinow-Sorauf syndrome, 180750; Craniosynostosis 1, 123100 for gene: TWIST1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | TWIST1 | Louise Daugherty Added phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, 101400; Sweeney-Cox syndrome, 617746; Robinow-Sorauf syndrome, 180750; Craniosynostosis 1, 123100 for gene: TWIST1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | TWIST1 | Louise Daugherty Added phenotypes Sweeney-Cox syndrome, 617746; Saethre-Chotzen syndrome with or without eyelid anomalies, 101400; Craniosynostosis 1, 123100; Robinow-Sorauf syndrome, 180750 for gene: TWIST1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | TWIST1 |
Louise Daugherty Mode of inheritance for gene TWIST1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, 101400; Sweeney-Cox syndrome, 617746; Robinow-Sorauf syndrome, 180750; Craniosynostosis 1, 123100 for gene: TWIST1 |
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| Severe Paediatric Disorders v0.7 | TWIST1 | Louise Daugherty Source Next Generation Children Project was added to TWIST1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | TWIST1 |
Louise Daugherty Source Expert Review Green was added to TWIST1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | TWIST1 |
Louise Daugherty gene: TWIST1 was added gene: TWIST1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TWIST1 was set to |
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