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| Leukodystrophy - paediatric v0.42 | SLC25A1 |
Bryony Thompson gene: SLC25A1 was added gene: SLC25A1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A1 were set to 29226520 Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria 615182 Review for gene: SLC25A1 was set to RED Added comment: Five infants of two consanguineous Bedouin families of the same tribe homozygous for the same variant with EEG compatible with white matter disorder. Death usually occurs in childhood. Sources: Expert list |
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| Leukodystrophy - paediatric v0.0 | SLC25A12 |
Bryony Thompson gene: SLC25A12 was added gene: SLC25A12 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A12 were set to Hypomyelination, global cerebral 612949 |
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