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| DDG2P v3.12 | NIPBL | Achchuthan Shanmugasundram reviewed gene: NIPBL: Rating: GREEN; Mode of pathogenicity: ; Publications: 15318302, 15146185, 11391654, 15146186, 16799922, 35446447; Phenotypes: CORNELIA DE LANGE SYNDROME TYPE 1, OMIM:122470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NIPBL | Achchuthan Shanmugasundram Publications for gene: NIPBL were updated from 15146185; 16799922; 15146186; 15318302; 11391654 to 15318302; 15146185; 11391654; 15146186; 16799922; 35446447 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NIPBL | Rebecca Foulger reviewed gene: NIPBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NIPBL |
Rebecca Foulger gene: NIPBL was added gene: NIPBL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NIPBL were set to 15146185; 16799922; 15146186; 15318302; 11391654 Phenotypes for gene: NIPBL were set to CORNELIA DE LANGE SYNDROME TYPE 1 122470 |
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