Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Possible mitochondrial disorder - nuclear genes v0.204 SLC25A42 Eleanor Williams Added comment: Comment on phenotypes: Updated as phenotype added to OMIM in May 2019.
Possible mitochondrial disorder - nuclear genes v0.204 SLC25A42 Eleanor Williams Phenotypes for gene: SLC25A42 were changed from No OMIM phenotype to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A42 Ivone Leong reviewed gene: SLC25A42: Rating: GREEN; Mode of pathogenicity: ; Publications: 26541337, 29327420, 29923093; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A42 Ivone Leong gene: SLC25A42 was added
gene: SLC25A42 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A42 were set to 26541337; 29923093; 29327420
Phenotypes for gene: SLC25A42 were set to No OMIM phenotype