Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Mitochondrial disease v0.1264 POLG Zornitza Stark Marked gene: POLG as ready
Mitochondrial disease v0.1264 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Mitochondrial disease v0.1264 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450
Mitochondrial disease v0.1263 POLG Zornitza Stark Publications for gene: POLG were set to
Mitochondrial disease v0.1262 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.643 POLG2 Zornitza Stark Marked gene: POLG2 as ready
Mitochondrial disease v0.643 POLG2 Zornitza Stark Gene: polg2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.643 POLG2 Zornitza Stark Phenotypes for gene: POLG2 were changed from to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131; Mitochondrial DNA depletion syndrome 16 , MIM# 618528
Mitochondrial disease v0.642 POLG2 Zornitza Stark Publications for gene: POLG2 were set to
Mitochondrial disease v0.641 POLG2 Zornitza Stark Mode of inheritance for gene: POLG2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.640 POLG2 Zornitza Stark reviewed gene: POLG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16685652, 21555342, 27592148, 31778857; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131, Mitochondrial DNA depletion syndrome 16 , MIM# 618528; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.0 POLG2 Zornitza Stark gene: POLG2 was added
gene: POLG2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLG2 was set to Unknown
Mitochondrial disease v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLG was set to Unknown