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| DDG2P v6.343 | SLC25A24 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC25A24 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SLC25A24 | Achchuthan Shanmugasundram edited their review of gene: SLC25A24: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC25A24-related hypertrichosis, progeroid appearance, and mitochondrial dysfunction (Gorlin-Chaudhry-Moss syndrome ) are definitive, monoallelic_autosomal and undetermined (PMIDs: 29100093, 29100094). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02383.; Changed publications to: 29100093, 29100094; Changed phenotypes to: SLC25A24-related hypertrichosis, progeroid appearance, and mitochondrial dysfunction (Gorlin-Chaudhry-Moss syndrome ), OMIM:612289.0, Gorlin-Chaudhry-Moss syndrome (GCMS), MONDO:0012853, Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A24 | Achchuthan Shanmugasundram reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100094, 29100093; Phenotypes: Gorlin-Chaudhry-Moss syndrome (GCMS), Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC25A24 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SLC25A24 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC25A24 | Rebecca Foulger reviewed gene: SLC25A24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC25A24 |
Rebecca Foulger gene: SLC25A24 was added gene: SLC25A24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A24 were set to 29100094; 29100093 Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction Mode of pathogenicity for gene: SLC25A24 was set to Other - please provide details in the comments |
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