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| DDG2P v3.12 | KMT2D | Achchuthan Shanmugasundram reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: ; Publications: 29283410, 27573763, 31935506, 28404210, 31949313, 29482518, 25944076, 24739679, 32083401, 27302555, 25142838, 30569626, 25972376, 27530205, 35060672, 20711175, 21607748, 29914387, 28295206, 21671394; Phenotypes: KMT2D multiple malformations disorder, KABUKI SYNDROME, OMIM:147920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KMT2D | Achchuthan Shanmugasundram Publications for gene: KMT2D were updated from to 29283410; 27573763; 31935506; 28404210; 31949313; 29482518; 25944076; 24739679; 32083401; 27302555; 25142838; 30569626; 27530205; 25972376; 35060672; 20711175; 21607748; 29914387; 28295206; 21671394 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KMT2D | Rebecca Foulger reviewed gene: KMT2D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KMT2D |
Rebecca Foulger gene: KMT2D was added gene: KMT2D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT2D were set to KABUKI SYNDROME 147920 |
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