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Callosome v0.330 EXOSC5 Zornitza Stark Phenotypes for gene: EXOSC5 were changed from Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576; Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia
Callosome v0.329 EXOSC5 Zornitza Stark Mode of inheritance for gene: EXOSC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.328 EXOSC5 Zornitza Stark edited their review of gene: EXOSC5: Changed phenotypes: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576, Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia
Callosome v0.211 EXOSC5 Zornitza Stark Marked gene: EXOSC5 as ready
Callosome v0.211 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Red List (Low Evidence).
Callosome v0.211 EXOSC5 Zornitza Stark Phenotypes for gene: EXOSC5 were changed from to Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia
Callosome v0.210 EXOSC5 Zornitza Stark Publications for gene: EXOSC5 were set to
Callosome v0.209 EXOSC5 Zornitza Stark Classified gene: EXOSC5 as Red List (low evidence)
Callosome v0.209 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Red List (Low Evidence).
Callosome v0.208 EXOSC5 Zornitza Stark reviewed gene: EXOSC5: Rating: RED; Mode of pathogenicity: None; Publications: 32504085, 29302074; Phenotypes: Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia; Mode of inheritance: None
Callosome v0.0 EXOSC5 Zornitza Stark gene: EXOSC5 was added
gene: EXOSC5 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EXOSC5 was set to Unknown