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| Leukodystrophy - paediatric v0.6 | ATPAF2 |
Bryony Thompson gene: ATPAF2 was added gene: ATPAF2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATPAF2 were set to 14757859 Phenotypes for gene: ATPAF2 were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Review for gene: ATPAF2 was set to RED Added comment: A homozygous missense variant identified in a single case diagnosed with mitochondrial encephalomyopathy, with white matter mypoplasia as one of the neurological features. No functional assays of the variant were conducted. Sources: Expert list |
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