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| Mitochondrial disease v0.546 | PET117 | Zornitza Stark Phenotypes for gene: PET117 were changed from Developmental delay to Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063; Developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.545 | PET117 | Zornitza Stark reviewed gene: PET117: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.431 | PET117 | Zornitza Stark Marked gene: PET117 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.431 | PET117 | Zornitza Stark Gene: pet117 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.296 | PET117 |
Bryony Thompson gene: PET117 was added gene: PET117 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PET117 were set to 28386624 Phenotypes for gene: PET117 were set to Developmental delay Review for gene: PET117 was set to RED Added comment: Two siblings with deficiency of complex IV of the respiratory chain and a homozygous variant. Only functional assays conducted were complementation assays in patient fibroblasts. Sources: NHS GMS |
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