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| Metaphyseal dysplasias v0.0 | SRP54 | Tiong Tan reviewed gene: SRP54: Rating: AMBER; Mode of pathogenicity: None; Publications: 29914977; Phenotypes: SBDS-like, severe congenital neutropenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metaphyseal dysplasias v0.0 | SBDS |
Tiong Tan gene: SBDS was added gene: SBDS was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400 |
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