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Fetal anomalies v0.3753 RPS6KA3 Zornitza Stark Marked gene: RPS6KA3 as ready
Fetal anomalies v0.3753 RPS6KA3 Zornitza Stark Gene: rps6ka3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3753 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
Fetal anomalies v0.3752 RPS6KA3 Zornitza Stark Publications for gene: RPS6KA3 were set to
Fetal anomalies v0.3721 RPS6KA3 Ain Roesley reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301520; 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); Current diagnostic: yes
Fetal anomalies v0.0 RPS6KA3 Zornitza Stark gene: RPS6KA3 was added
gene: RPS6KA3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: RPS6KA3 were set to COFFIN-LOWRY SYNDROME