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| DDG2P v6.148 | DNM1L | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DNM1L was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DNM1L | Achchuthan Shanmugasundram edited their review of gene: DNM1L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DNM1L-related developmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 26604000, 26992161, 27328748, 29877124, 30801875, 30850373, 30939602, 31475481, 31587467). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02853.; Changed publications to: 30850373, 30939602, 26992161, 30801875, 26604000, 31587467, 31475481, 27328748, 29877124; Changed phenotypes to: DNM1L-related developmental disorder, MONDO:0013726, DNM1L-related developmental disorder (monoallelic), OMIM:614388.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNM1L | Achchuthan Shanmugasundram reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26604000, 26992161, 30850373, 27328748, 30939602, 29877124, 31475481, 30801875, 31587467; Phenotypes: DNM1L-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DNM1L |
Achchuthan Shanmugasundram gene: DNM1L was added gene: DNM1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DNM1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNM1L were set to 26604000; 26992161; 30850373; 27328748; 30939602; 29877124; 31475481; 30801875; 31587467 Phenotypes for gene: DNM1L were set to DNM1L-related developmental disorder (monoallelic) Mode of pathogenicity for gene: DNM1L was set to Other |
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