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DDG2P v3.12 | NUP214 | Achchuthan Shanmugasundram reviewed gene: NUP214: Rating: GREEN; Mode of pathogenicity: ; Publications: 31178128; Phenotypes: Acute Febrile Encephalopathy, OMIM:618426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | NUP214 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NUP214. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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DDG2P v1.130 | NUP214 | Rebecca Foulger reviewed gene: NUP214: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.129 | NUP214 |
Rebecca Foulger gene: NUP214 was added gene: NUP214 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP214 were set to 31178128 Phenotypes for gene: NUP214 were set to Acute Febrile Encephalopathy 618426 |