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| Intellectual disability v3.3 | SBDS | Zornitza Stark reviewed gene: SBDS: Rating: RED; Mode of pathogenicity: None; Publications: 19906387; Phenotypes: Shwachman-Diamond syndrome, MIM#260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.978 | SRP54 |
Catherine Snow gene: SRP54 was added gene: SRP54 was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: SRP54 was set to Publications for gene: SRP54 were set to 28972538; 30914295 Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features |
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| Intellectual disability v2.468 | WAC | Louise Daugherty Source Victorian Clinical Genetics Services was added to WAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | WAC | BRIDGE consortium edited their review of WAC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | WAC | BRIDGE consortium reviewed WAC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||