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Fetal anomalies v0.3110 RPS29 Zornitza Stark Marked gene: RPS29 as ready
Fetal anomalies v0.3110 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3110 RPS29 Zornitza Stark Classified gene: RPS29 as Amber List (moderate evidence)
Fetal anomalies v0.3110 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3106 RPS29 Krithika Murali gene: RPS29 was added
gene: RPS29 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RPS29 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS29 were set to 24829207
Phenotypes for gene: RPS29 were set to Diamond-Blackfan anemia 13 - MIM#615909
Review for gene: RPS29 was set to AMBER
Added comment: 2 unrelated families reported with Diamond Blackfan anaemia. DBA known to be associated with congenital malformations. 1 affected individual reported in this publication to have congenital aortic stenosis and Sprengel deformity.
Sources: Literature