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| DDG2P v6.262 | NAE1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: NAE1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NAE1 | Achchuthan Shanmugasundram edited their review of gene: NAE1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NAE1-related neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia, and neurodegeneration are moderate, biallelic_autosomal and undetermined (PMID:36608681). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03425.; Changed phenotypes to: OMIM:620210.0, NAE1-associated neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration, NAE1-related neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia, and neurodegeneration, MONDO:0859361 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAE1 | Achchuthan Shanmugasundram reviewed gene: NAE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36608681; Phenotypes: NAE1-associated neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NAE1 |
Achchuthan Shanmugasundram gene: NAE1 was added gene: NAE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NAE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAE1 were set to 36608681 Phenotypes for gene: NAE1 were set to NAE1-associated neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration Mode of pathogenicity for gene: NAE1 was set to Other |
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