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| DDG2P v3.12 | SPTBN1 | Achchuthan Shanmugasundram reviewed gene: SPTBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34211179, 33847457; Phenotypes: SPTBN1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SPTBN1 |
Achchuthan Shanmugasundram gene: SPTBN1 was added gene: SPTBN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPTBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTBN1 were set to 34211179; 33847457 Phenotypes for gene: SPTBN1 were set to SPTBN1-related developmental disorder (monoallelic) |
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