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| DDG2P v3.12 | SETBP1 | Achchuthan Shanmugasundram reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20436468; Phenotypes: DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, OMIM:269150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SETBP1 | Rebecca Foulger reviewed gene: SETBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SETBP1 | Rebecca Foulger Added phenotypes DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY for gene: SETBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SETBP1 |
Rebecca Foulger gene: SETBP1 was added gene: SETBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SETBP1 were set to 20436468 Phenotypes for gene: SETBP1 were set to SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME 269150 |
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