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| DDG2P v3.12 | SLC25A42 | Achchuthan Shanmugasundram reviewed gene: SLC25A42: Rating: GREEN; Mode of pathogenicity: ; Publications: 29923093, 29327420, 26541337; Phenotypes: SLC25A42-associated metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A4 | Achchuthan Shanmugasundram reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27693233, 30046662, 30329211; Phenotypes: Fontaine progeroid syndrome, Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC25A42 |
Achchuthan Shanmugasundram gene: SLC25A42 was added gene: SLC25A42 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A42 were set to 29923093; 29327420; 26541337 Phenotypes for gene: SLC25A42 were set to SLC25A42-associated metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416 |
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| DDG2P v3.11 | SLC25A4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A4. Mode of pathogenicity for gene SLC25A4 was changed from Other - please provide details in the comments to Other Publications for gene: SLC25A4 were updated from 30046662; 27693233; 30329211 to 27693233; 30046662; 30329211 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.38 | SLC25A4 | Rebecca Foulger Publications for gene: SLC25A4 were set to 27693233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.15 | SLC25A4 | Rebecca Foulger Phenotypes for gene: SLC25A4 were changed from Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number; Fontaine progeroid syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.9 | SLC25A4 | Rebecca Foulger edited their review of gene: SLC25A4: Added comment: New gene:disorder association added to DDG2P on 08/11/2018: Fontaine progeroid syndrome. Rated probable in DDG2P for both Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number, and Fontaine progeroid syndrome. DG2P mode of pathogenicity for both Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number, and Fontaine progeroid syndrome: all missense/in frame.; Changed publications: 30329211; Changed phenotypes: Fontaine progeroid syndrome; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC25A4 | Rebecca Foulger reviewed gene: SLC25A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC25A4 |
Rebecca Foulger gene: SLC25A4 was added gene: SLC25A4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A4 were set to 27693233 Phenotypes for gene: SLC25A4 were set to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number Mode of pathogenicity for gene: SLC25A4 was set to Other - please provide details in the comments |
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