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| Regression v0.465 | SLC25A42 | Zornitza Stark Marked gene: SLC25A42 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.465 | SLC25A42 | Zornitza Stark Gene: slc25a42 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.465 | SLC25A42 | Zornitza Stark Classified gene: SLC25A42 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.465 | SLC25A42 | Zornitza Stark Gene: slc25a42 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.464 | SLC25A42 |
Zornitza Stark gene: SLC25A42 was added gene: SLC25A42 was added to Regression. Sources: Expert Review founder tags were added to gene: SLC25A42. Mode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A42 were set to 26541337; 29327420; 29923093; 34258143 Phenotypes for gene: SLC25A42 were set to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416 Review for gene: SLC25A42 was set to GREEN Added comment: Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is an autosomal recessive metabolic disorder with a highly variable phenotype. Most affected individuals present in the first years of life with episodic lactic acidosis associated with illness or stress, resulting in transient or permanent neurologic dysfunction. Some patients may recover, whereas others show subsequent variable developmental regression of motor and cognitive skills. Other features may include dystonia, hypotonia with inability to sit or walk, seizures, and abnormal signals in the basal ganglia. Sixteen individuals reported, 14 with the same founder variant, c.871A > G:p.Asn291Asp. Two additional variants reported in another two individuals. Sources: Expert Review |
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