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Severe Paediatric Disorders v0.17 | BCKDHB | Louise Daugherty Mode of inheritance for gene BCKDHB was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | BCKDHB | Louise Daugherty reviewed gene: BCKDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | BCKDHB | Louise Daugherty Publications for gene BCKDHB were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | BCKDHB | Louise Daugherty Added phenotypes Maple syrup urine disease, type Ib, 248600 for gene: BCKDHB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | BCKDHB | Louise Daugherty Added phenotypes Maple syrup urine disease, type Ib, 248600 for gene: BCKDHB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | BCKDHB | Louise Daugherty Added phenotypes Maple syrup urine disease, type Ib, 248600 for gene: BCKDHB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | BCKDHB | Louise Daugherty Added phenotypes Maple syrup urine disease, type Ib, 248600 for gene: BCKDHB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | BCKDHB | Louise Daugherty Source Next Generation Children Project was added to BCKDHB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | BCKDHB |
Louise Daugherty Source Expert Review Green was added to BCKDHB. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | BCKDHB |
Louise Daugherty gene: BCKDHB was added gene: BCKDHB was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: BCKDHB was set to |