Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. Currently there is not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Ivone Leong Phenotypes for gene: SLC25A42 were changed from muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416
Zornitza Stark reviewed gene: SLC25A42: Rating: AMBER; Mode of pathogenicity: None; Publications: 26541337, 29923093, 29327420; Phenotypes: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (MIM#618416); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal