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Prepair 1000+ v1.1314 | RPS6KA3 | Zornitza Stark Marked gene: RPS6KA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1314 | RPS6KA3 | Zornitza Stark Gene: rps6ka3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1314 | RPS6KA3 | Zornitza Stark Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome to Coffin-Lowry syndrome, MIM#303600; Intellectual developmental disorder, X-linked 19; MIM#300844 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1313 | RPS6KA3 | Zornitza Stark Publications for gene: RPS6KA3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1257 | RPS6KA3 | Crystle Lee reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16879200; Phenotypes: Coffin-Lowry syndrome, MIM#303600, Intellectual developmental disorder, X-linked 19, MIM#300844; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.3 | RPS6KA3 | Seb Lunke Added phenotypes Coffin-Lowry syndrome for gene: RPS6KA3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v0.0 | RPS6KA3 |
Zornitza Stark gene: RPS6KA3 was added gene: RPS6KA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome |