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| DDG2P v3.12 | KAT6B | Achchuthan Shanmugasundram reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 24458743, 29226580, 31871732, 30353918, 26370006, 28426343, 26334766, 28758091, 25424711, 23436491, 30569622, 22265017, 27696664, 30900427, 22077973, 22265014, 28696035, 28232779; Phenotypes: GENITOPATELLAR SYNDROME, OMIM:606170, SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME, OMIM:603736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KAT6B | Achchuthan Shanmugasundram Publications for gene: KAT6B were updated from 12210330; 12949978; 16761293; 12210329; 22265014 to 31871732; 12949978; 27696664; 22077973; 28696035; 24458743; 30353918; 26370006; 26334766; 25424711; 12210330; 29226580; 28758091; 16761293; 28232779; 30569622; 22265017; 30900427; 28426343; 23436491; 12210329; 22265014 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KAT6B | Rebecca Foulger reviewed gene: KAT6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KAT6B |
Rebecca Foulger Added phenotypes GENITOPATELLAR SYNDROME 606170 for gene: KAT6B Publications for gene KAT6B were changed from to 12210330; 12949978; 16761293; 12210329; 22265014 |
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| DDG2P v0.1 | KAT6B |
Rebecca Foulger gene: KAT6B was added gene: KAT6B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KAT6B were set to BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE |
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