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| Prepair 1000+ v1.21 | GFM1 |
Lauren Rogers changed review comment from: Well established gene-disease association. Onset at birth with death within first months of life No treatment available Non-genetic confirmatory test: - Fibroblasts show decreased activity of mitochondrial respiratory complex I, complex III, complex IV, and complex V ; to: Well established gene-disease association. Onset at birth with death within first months of life No treatment available |
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| Prepair 1000+ v1.16 | GFM1 | Zornitza Stark Marked gene: GFM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.16 | GFM1 | Zornitza Stark Gene: gfm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.16 | GFM1 |
Lauren Rogers changed review comment from: Well established gene-disease association. Onset at birth with death within first months of life No treatment available Non-genetic confirmatory test: - Fibroblasts show decreased activity of mitochondrial respiratory complex I, complex III, complex IV, and complex V Detection on NBS would establish diagnosis early and allow palliative treatment; to: Well established gene-disease association. Onset at birth with death within first months of life No treatment available Non-genetic confirmatory test: - Fibroblasts show decreased activity of mitochondrial respiratory complex I, complex III, complex IV, and complex V |
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| Prepair 1000+ v1.9 | GFM1 | Lauren Rogers reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | GFM1 | Seb Lunke Added phenotypes Combined oxidative phosphorylation deficiency 1, 609060 (3) for gene: GFM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | GFM1 |
Zornitza Stark gene: GFM1 was added gene: GFM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1, 609060 (3) |
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