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Severe Paediatric Disorders v0.12 | UBTF | Louise Daugherty reviewed gene: UBTF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | UBTF | Louise Daugherty Publications for gene UBTF were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | UBTF | Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 for gene: UBTF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | UBTF | Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 for gene: UBTF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | UBTF | Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 for gene: UBTF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | UBTF | Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 for gene: UBTF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | UBTF |
Louise Daugherty Mode of inheritance for gene UBTF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 for gene: UBTF |
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Severe Paediatric Disorders v0.7 | UBTF | Louise Daugherty Source Next Generation Children Project was added to UBTF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | UBTF |
Louise Daugherty Source Expert Review Green was added to UBTF. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | UBTF |
Louise Daugherty gene: UBTF was added gene: UBTF was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: UBTF was set to |