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Skeletal dysplasia v0.24 | SRP54 | Zornitza Stark Marked gene: SRP54 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v0.24 | SRP54 | Zornitza Stark Gene: srp54 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v0.24 | SRP54 | Tiong Tan Added phenotypes 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 for gene: SRP54 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v0.24 | SRP54 | Tiong Tan Added phenotypes 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 for gene: SRP54 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v0.23 | SRP54 |
Tiong Tan gene: SRP54 was added gene: SRP54 was added to Skeletal dysplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: SRP54 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SRP54 were set to 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 |