Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Mendeliome v0.12827 SLC25A19 Zornitza Stark Marked gene: SLC25A19 as ready
Mendeliome v0.12827 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Green List (High Evidence).
Mendeliome v0.12827 SLC25A19 Zornitza Stark Phenotypes for gene: SLC25A19 were changed from to Microcephaly, Amish type, MIM#607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710
Mendeliome v0.12826 SLC25A19 Zornitza Stark Publications for gene: SLC25A19 were set to
Mendeliome v0.12825 SLC25A19 Zornitza Stark Mode of inheritance for gene: SLC25A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12824 SLC25A19 Zornitza Stark reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: 31506564, 31295743, 12185364, 19798730; Phenotypes: Microcephaly, Amish type, MIM#607196, Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 SLC25A19 Zornitza Stark gene: SLC25A19 was added
gene: SLC25A19 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A19 was set to Unknown