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Severe Paediatric Disorders v0.17 | CBS | Louise Daugherty Mode of inheritance for gene CBS was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | CBS | Louise Daugherty reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | CBS | Louise Daugherty Publications for gene CBS were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | CBS | Louise Daugherty Added phenotypes Thrombosis, hyperhomocysteinemic, 236200; Homocystinuria, B6-responsive and nonresponsive types, 236200 for gene: CBS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CBS | Louise Daugherty Added phenotypes Thrombosis, hyperhomocysteinemic, 236200; Homocystinuria, B6-responsive and nonresponsive types, 236200 for gene: CBS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CBS | Louise Daugherty Added phenotypes Thrombosis, hyperhomocysteinemic, 236200; Homocystinuria, B6-responsive and nonresponsive types, 236200 for gene: CBS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | CBS | Louise Daugherty Added phenotypes Homocystinuria, B6-responsive and nonresponsive types, 236200; Thrombosis, hyperhomocysteinemic, 236200 for gene: CBS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | CBS | Louise Daugherty Source Next Generation Children Project was added to CBS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | CBS |
Louise Daugherty Source Expert Review Green was added to CBS. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | CBS |
Louise Daugherty gene: CBS was added gene: CBS was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CBS was set to |