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| DDG2P v3.12 | BPTF | Achchuthan Shanmugasundram reviewed gene: BPTF: Rating: GREEN; Mode of pathogenicity: ; Publications: 28942966; Phenotypes: Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BPTF |
Achchuthan Shanmugasundram Source Expert Review Green was added to BPTF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | BPTF | Rebecca Foulger reviewed gene: BPTF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | BPTF |
Rebecca Foulger gene: BPTF was added gene: BPTF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BPTF were set to 28942966 Phenotypes for gene: BPTF were set to Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features |
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