Activity

Filter

Cancel
Date Panel Item Activity
7 actions
BabyScreen+ newborn screening v0.1375 RSPH9 Zornitza Stark Marked gene: RSPH9 as ready
BabyScreen+ newborn screening v0.1375 RSPH9 Zornitza Stark Gene: rsph9 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1375 RSPH9 Zornitza Stark Phenotypes for gene: RSPH9 were changed from Ciliary dyskinesia, primary to Ciliary dyskinesia, primary, 12 (MIM#612650)
BabyScreen+ newborn screening v0.1374 RSPH9 Zornitza Stark Classified gene: RSPH9 as Red List (low evidence)
BabyScreen+ newborn screening v0.1374 RSPH9 Zornitza Stark Gene: rsph9 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1373 RSPH9 Zornitza Stark reviewed gene: RSPH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 12 (MIM#612650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 RSPH9 Zornitza Stark gene: RSPH9 was added
gene: RSPH9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary