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| DDG2P v6.378 | TFE3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TFE3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TFE3 | Achchuthan Shanmugasundram edited their review of gene: TFE3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TFE3-related intellectual disability with pigmentary mosaicism and coarse features are definitive, monoallelic_X_heterozygous and undetermined (PMIDs: 1672758, 30595499, 31833172, 32409512, 33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03013.; Changed publications to: 1672758, 33057194, 30595499, 32409512, 31833172; Changed phenotypes to: OMIM:301066.0, MONDO:0859080, Intellectual disability with pigmentary mosaicism and storage disorder, TFE3-related intellectual disability with pigmentary mosaicism, TFE3-related intellectual disability with pigmentary mosaicism and coarse features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | TFE3 | Achchuthan Shanmugasundram edited their review of gene: TFE3: Added comment: The DDG2P confidence category for the disease TFE3-related intellectual disability with pigmentary mosaicism and coarse features is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and altered gene product structure (PMID: 33057194;31833172;32409512;30595499).; Changed publications to: 31833172, 32409512, 30595499, 33057194; Changed phenotypes to: TFE3-related intellectual disability with pigmentary mosaicism, TFE3-related intellectual disability with pigmentary mosaicism and coarse features, Intellectual disability with pigmentary mosaicism and storage disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TFE3 | Achchuthan Shanmugasundram reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595499, 33057194, 32409512, 31833172; Phenotypes: TFE3-related intellectual disability with pigmentary mosaicism, Intellectual disability with pigmentary mosaicism and storage disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TFE3 |
Achchuthan Shanmugasundram gene: TFE3 was added gene: TFE3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TFE3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TFE3 were set to 30595499; 33057194; 32409512; 31833172 Phenotypes for gene: TFE3 were set to TFE3-related intellectual disability with pigmentary mosaicism; Intellectual disability with pigmentary mosaicism and storage disorder Mode of pathogenicity for gene: TFE3 was set to Other |
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