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| Leukodystrophy - paediatric v0.41 | SLC13A5 | Bryony Thompson Classified gene: SLC13A5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.41 | SLC13A5 | Bryony Thompson Gene: slc13a5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.40 | SLC13A5 |
Bryony Thompson gene: SLC13A5 was added gene: SLC13A5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A5 were set to 27913086 Phenotypes for gene: SLC13A5 were set to Epileptic encephalopathy, early infantile, 25 615905 Review for gene: SLC13A5 was set to AMBER Added comment: Six out of seven infants with punctate white matter lesions, which were no longer visible at the age of 6 months. Sources: Expert list |
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