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| Mitochondrial disease v0.459 | SLC25A10 | Zornitza Stark Phenotypes for gene: SLC25A10 were changed from Intractable epileptic encephalopathy to Intractable epileptic encephalopathy; Mitochondrial DNA depletion syndrome 19, MIM# 618972 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.458 | SLC25A10 | Zornitza Stark reviewed gene: SLC25A10: Rating: AMBER; Mode of pathogenicity: None; Publications: 29211846; Phenotypes: Mitochondrial DNA depletion syndrome 19, MIM# 618972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.434 | SLC25A10 | Zornitza Stark Marked gene: SLC25A10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.434 | SLC25A10 | Zornitza Stark Gene: slc25a10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.234 | SLC25A10 | Bryony Thompson Classified gene: SLC25A10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.234 | SLC25A10 | Bryony Thompson Gene: slc25a10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.233 | SLC25A10 |
Bryony Thompson gene: SLC25A10 was added gene: SLC25A10 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: SLC25A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A10 were set to 29211846 Phenotypes for gene: SLC25A10 were set to Intractable epileptic encephalopathy Review for gene: SLC25A10 was set to AMBER Added comment: One case with intractable epileptic encephalopathy with complex I deficiency, with biallelic variants. Yeast SLC25A10 ortholog lack-of-function causes impairment in mitochondrial respiration, reduced mtDNA copy number and oxidative stress vulnerability Sources: NHS GMS |
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| Mitochondrial disease v0.0 | SLC25A19 |
Zornitza Stark gene: SLC25A19 was added gene: SLC25A19 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC25A19 was set to Unknown |
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| Mitochondrial disease v0.0 | SLC25A12 |
Zornitza Stark gene: SLC25A12 was added gene: SLC25A12 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC25A12 was set to Unknown |
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| Mitochondrial disease v0.0 | SLC25A1 |
Zornitza Stark gene: SLC25A1 was added gene: SLC25A1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC25A1 was set to Unknown |
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