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Severe Paediatric Disorders v0.17 | CTBP1 | Louise Daugherty Mode of inheritance for gene CTBP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | CTBP1 | Louise Daugherty reviewed gene: CTBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | CTBP1 | Louise Daugherty Publications for gene CTBP1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | CTBP1 | Louise Daugherty Added phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 for gene: CTBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CTBP1 | Louise Daugherty Added phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 for gene: CTBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CTBP1 | Louise Daugherty Added phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 for gene: CTBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | CTBP1 | Louise Daugherty Added phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 for gene: CTBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | CTBP1 | Louise Daugherty Source Next Generation Children Project was added to CTBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | CTBP1 |
Louise Daugherty Source Expert Review Green was added to CTBP1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | CTBP1 |
Louise Daugherty gene: CTBP1 was added gene: CTBP1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CTBP1 was set to |