Activity
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| DDG2P v6.272 | NKAP | Achchuthan Shanmugasundram Mode of pathogenicity for gene: NKAP was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NKAP | Achchuthan Shanmugasundram edited their review of gene: NKAP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NKAP-related marfanoid habitus and cognitive impairment are strong, monoallelic_X_hemizygous and undetermined (PMID:31587868). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02830.; Changed phenotypes to: MONDO:0026733, NKAP-related marfanoid habitus and cognitive impairment, Marfanoid Habitus and Cognitive Impairment, OMIM:301039.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NKAP | Achchuthan Shanmugasundram reviewed gene: NKAP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31587868; Phenotypes: Marfanoid Habitus and Cognitive Impairment; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NKAP |
Achchuthan Shanmugasundram gene: NKAP was added gene: NKAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NKAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NKAP were set to 31587868 Phenotypes for gene: NKAP were set to Marfanoid Habitus and Cognitive Impairment Mode of pathogenicity for gene: NKAP was set to Other |
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