Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Ciliary Dyskinesia v0.98 RPGR Zornitza Stark Marked gene: RPGR as ready
Ciliary Dyskinesia v0.98 RPGR Zornitza Stark Gene: rpgr has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.98 RPGR Zornitza Stark Phenotypes for gene: RPGR were changed from to Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455
Ciliary Dyskinesia v0.97 RPGR Zornitza Stark Publications for gene: RPGR were set to
Ciliary Dyskinesia v0.96 RPGR Zornitza Stark Mode of inheritance for gene: RPGR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ciliary Dyskinesia v0.95 RPGR Zornitza Stark reviewed gene: RPGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094550, 12920075, 16055928; Phenotypes: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ciliary Dyskinesia v0.0 RPGR Zornitza Stark gene: RPGR was added
gene: RPGR was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPGR was set to Unknown