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| Likely inborn error of metabolism - targeted testing not possible v1.277 | SLC25A12 | Ivone Leong commented on gene: SLC25A12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.76 | SLC25A12 |
Sarah Leigh Source Expert Review Green was added to SLC25A12. Added phenotypes Epileptic encephalopathy, early infantile, 39 612949 for gene: SLC25A12 Publications for gene SLC25A12 were changed from 27604308 to 19641205; 27290639; 24515575 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | SLC25A12 |
Ivone Leong Source NHS GMS was added to SLC25A12. Source London North GLH was added to SLC25A12. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A12 | Ellen McDonagh Added phenotypes Hypomyelination, global cerebral, 612949 for gene: SLC25A12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A12 |
Ellen McDonagh gene: SLC25A12 was added gene: SLC25A12 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A12 were set to 27604308 Phenotypes for gene: SLC25A12 were set to Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders |
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