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Severe Paediatric Disorders v0.17 | KYNU | Louise Daugherty Mode of inheritance for gene KYNU was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | KYNU | Louise Daugherty reviewed gene: KYNU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | KYNU | Louise Daugherty Publications for gene KYNU were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | KYNU | Louise Daugherty Added phenotypes ?Hydroxykynureninuria, 236800; Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 for gene: KYNU | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | KYNU | Louise Daugherty Added phenotypes ?Hydroxykynureninuria, 236800; Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 for gene: KYNU | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | KYNU | Louise Daugherty Added phenotypes ?Hydroxykynureninuria, 236800; Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 for gene: KYNU | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | KYNU | Louise Daugherty Added phenotypes Vertebral, cardiac, renal, and limb defects syndrome 2, 617661; ?Hydroxykynureninuria, 236800 for gene: KYNU | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | KYNU | Louise Daugherty Source Next Generation Children Project was added to KYNU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | KYNU |
Louise Daugherty Source Expert Review Green was added to KYNU. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | KYNU |
Louise Daugherty gene: KYNU was added gene: KYNU was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: KYNU was set to |