Activity
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| DDG2P v6.264 | NCDN | Achchuthan Shanmugasundram Mode of pathogenicity for gene: NCDN was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NCDN | Achchuthan Shanmugasundram edited their review of gene: NCDN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NCDN-related neurodevelopmental disorder with seizures (biallelic) are limited, biallelic_autosomal and undetermined (PMID:33711248). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03115. The DDG2P confidence category, allelic requirement and molecular mechanism for NCDN-related neurodevelopmental disorder with seizures (monoallelic) are strong, monoallelic_autosomal and undetermined (PMID:33711248). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03116.; Changed phenotypes to: NCDN-related neurodevelopmental disorder with seizures (biallelic), NCDN-associated neurodevelopmental disorder with seizures (monoallelic), MONDO:0859162, NCDN-associated neurodevelopmental disorder with seizures (biallelic), NCDN-related neurodevelopmental disorder with seizures (monoallelic), OMIM:619373.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NCDN | Achchuthan Shanmugasundram reviewed gene: NCDN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33711248; Phenotypes: NCDN-associated neurodevelopmental disorder with seizures (monoallelic), NCDN-associated neurodevelopmental disorder with seizures (biallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NCDN |
Achchuthan Shanmugasundram gene: NCDN was added gene: NCDN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NCDN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NCDN were set to 33711248 Phenotypes for gene: NCDN were set to NCDN-associated neurodevelopmental disorder with seizures (monoallelic); NCDN-associated neurodevelopmental disorder with seizures (biallelic) Mode of pathogenicity for gene: NCDN was set to Other |
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