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| DDG2P v6.17 | CUX1 | Achchuthan Shanmugasundram edited their review of gene: CUX1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CUX1-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMIDs: 30014507, 37644171). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02990.; Changed rating: GREEN; Changed publications to: 37644171, 30014507; Changed phenotypes to: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT, CUX1-related neurodevelopmental disorder, MONDO:0032680, OMIM:618330.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | CUX1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CUX1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.12 | CUX1 | Achchuthan Shanmugasundram reviewed gene: CUX1: Rating: RED; Mode of pathogenicity: ; Publications: 30014507; Phenotypes: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CUX1 |
Achchuthan Shanmugasundram gene: CUX1 was added gene: CUX1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CUX1 were set to 30014507 Phenotypes for gene: CUX1 were set to GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT |
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