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Intellectual disability - microarray and sequencing 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 - microarray and sequencing 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
Intellectual disability - microarray and sequencing v2.468 WAC Louise Daugherty Source Victorian Clinical Genetics Services was added to WAC.
Intellectual disability - microarray and sequencing WAC BRIDGE consortium edited their review of WAC
Intellectual disability - microarray and sequencing WAC BRIDGE consortium reviewed WAC