Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Mendeliome v0.13205 FASTKD2 Zornitza Stark Phenotypes for gene: FASTKD2 were changed from FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632 to Combined oxidative phosphorylation deficiency 44, MIM# 618855; FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632
Mendeliome v0.13204 FASTKD2 Zornitza Stark Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13117 FASTKD2 Bryony Thompson Marked gene: FASTKD2 as ready
Mendeliome v0.13117 FASTKD2 Bryony Thompson Gene: fastkd2 has been classified as Green List (High Evidence).
Mendeliome v0.13117 FASTKD2 Bryony Thompson Phenotypes for gene: FASTKD2 were changed from to FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632
Mendeliome v0.13116 FASTKD2 Bryony Thompson Publications for gene: FASTKD2 were set to
Mendeliome v0.13115 FASTKD2 Bryony Thompson reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18771761, 28499982, 31944455, 34234304; Phenotypes: FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 FASTKD2 Zornitza Stark gene: FASTKD2 was added
gene: FASTKD2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FASTKD2 was set to Unknown