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| 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 v3.12 | DNM1 | Achchuthan Shanmugasundram reviewed gene: DNM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36413998, 34172529, 25262651; Phenotypes: DNM1-associated microcephaly, developmental and epileptic encephalopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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| DDG2P v3.11 | DNM1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DNM1. Mode of inheritance for gene DNM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DNM1 were updated from to 36413998; 34172529; 25262651 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | DNM1 | Rebecca Foulger reviewed gene: DNM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DNM1 |
Rebecca Foulger gene: DNM1 was added gene: DNM1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DNM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DNM1 were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: DNM1 was set to Other - please provide details in the comments |
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