Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Fetal anomalies v2.0 RPS28 Gene migrated from ENSG00000233927 to ENSG00000233927 (gene set migration)
Fetal anomalies v1.492 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis - MIM#606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis - MIM#606164
Fetal anomalies v1.491 RPS28 Zornitza Stark Publications for gene: RPS28 were set to 24942156
Fetal anomalies v1.490 RPS28 Zornitza Stark Classified gene: RPS28 as Green List (high evidence)
Fetal anomalies v1.490 RPS28 Zornitza Stark Gene: rps28 has been classified as Green List (High Evidence).
Fetal anomalies v1.489 RPS28 Zornitza Stark reviewed gene: RPS28: Rating: GREEN; Mode of pathogenicity: None; Publications: 40135709; Phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis - MIM#606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3109 RPS28 Zornitza Stark Marked gene: RPS28 as ready
Fetal anomalies v0.3109 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3109 RPS28 Zornitza Stark Classified gene: RPS28 as Amber List (moderate evidence)
Fetal anomalies v0.3109 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3106 RPS28 Krithika Murali gene: RPS28 was added
gene: RPS28 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS28 were set to 24942156
Phenotypes for gene: RPS28 were set to Diamond Blackfan anemia 15 with mandibulofacial dysostosis - MIM#606164
Review for gene: RPS28 was set to AMBER
Added comment: 2 unrelated families reported in 2014. Antenatally detectable phenotypic features included cleft palate, micrognathia, cardiac, auricular and renal anomalies
Sources: Literature