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| DDG2P v3.12 | KPTN | Achchuthan Shanmugasundram reviewed gene: KPTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 24239382; Phenotypes: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KPTN |
Achchuthan Shanmugasundram Source Expert Review Green was added to KPTN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | KPTN | Rebecca Foulger reviewed gene: KPTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KPTN |
Rebecca Foulger gene: KPTN was added gene: KPTN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KPTN were set to 24239382 Phenotypes for gene: KPTN were set to MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES |
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