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| DDG2P v3.12 | EBF3 | Achchuthan Shanmugasundram reviewed gene: EBF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28017372, 28017370, 28017373; Phenotypes: Intellectual Disability, Ataxia, and Facial Dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EBF3 | Achchuthan Shanmugasundram Publications for gene: EBF3 were updated from 28017370; 28017372; 28017373 to 28017372; 28017370; 28017373 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.25 | EBF3 | Sarah Leigh Added comment: Comment on phenotypes: Intellectual Disability, Ataxia, and Facial Dysmorphism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.25 | EBF3 | Sarah Leigh Phenotypes for gene: EBF3 were changed from Intellectual Disability, Ataxia, and Facial Dysmorphism to Hypotonia, ataxia, and delayed development syndrome OMIM:617330; hypotonia, ataxia, and delayed development syndrome MONDO:0015021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EBF3 | Rebecca Foulger reviewed gene: EBF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EBF3 |
Rebecca Foulger gene: EBF3 was added gene: EBF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EBF3 were set to 28017370; 28017372; 28017373 Phenotypes for gene: EBF3 were set to Intellectual Disability, Ataxia, and Facial Dysmorphism |
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