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| DDG2P v6.391 | TRPM3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRPM3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TRPM3 | Achchuthan Shanmugasundram edited their review of gene: TRPM3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRPM3-related developmental disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 31278393, 32439617, 34438093, 35146895, 36648066). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02899.; Changed publications to: 34438093, 31278393, 36648066, 35146895, 32439617; Changed phenotypes to: MONDO:0859365, TRPM3-related developmental disorder, OMIM:620224.0, TRPM3-related developmental disorder (monoallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRPM3 | Achchuthan Shanmugasundram reviewed gene: TRPM3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36648066, 32439617, 34438093, 35146895, 31278393; Phenotypes: TRPM3-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TRPM3 |
Achchuthan Shanmugasundram gene: TRPM3 was added gene: TRPM3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPM3 were set to 36648066; 32439617; 34438093; 35146895; 31278393 Phenotypes for gene: TRPM3 were set to TRPM3-related developmental disorder (monoallelic) Mode of pathogenicity for gene: TRPM3 was set to Other |
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