Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Regression v0.79 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Regression v0.79 MTPAP Zornitza Stark Gene: mtpap has been classified as Amber List (Moderate Evidence).
Regression v0.79 MTPAP Zornitza Stark Phenotypes for gene: MTPAP were changed from to Perinatal lethal encephalopathy; Spastic ataxia 4, autosomal recessive, MIM#613672
Regression v0.78 MTPAP Zornitza Stark Publications for gene: MTPAP were set to
Regression v0.77 MTPAP Zornitza Stark Mode of inheritance for gene: MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.76 MTPAP Zornitza Stark Classified gene: MTPAP as Amber List (moderate evidence)
Regression v0.76 MTPAP Zornitza Stark Gene: mtpap has been classified as Amber List (Moderate Evidence).
Regression v0.75 MTPAP Zornitza Stark reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 31779033; Phenotypes: Perinatal lethal encephalopathy, Spastic ataxia 4, autosomal recessive, MIM#613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.0 MTPAP Zornitza Stark gene: MTPAP was added
gene: MTPAP was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MTPAP was set to Unknown