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| DDG2P v5.16 | DLL1 | Achchuthan Shanmugasundram Phenotypes for gene: DLL1 were changed from INTELLECTUAL DISABILITY 616579 to DLL1-related neurodevelopmental disorder with nonspecific brain abnormalities, with or without seizures, OMIM:618709 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.15 | DLL1 | Achchuthan Shanmugasundram Publications for gene: DLL1 were set to 31353024 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.14 | DLL1 | Achchuthan Shanmugasundram edited their review of gene: DLL1: Changed phenotypes to: DLL1-related neurodevelopmental disorder with nonspecific brain abnormalities, with or without seizures, OMIM:618709 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | DLL1 | Achchuthan Shanmugasundram edited their review of gene: DLL1: Added comment: The DDG2P confidence category for the disease DLL1-related neurodevelopmental disorder with nonspecific brain abnormalities, with or without seizures, OMIM:618709 is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 36590296;31353024;37204857).; Changed rating: GREEN; Changed publications to: 37204857, 36590296, 31353024; Changed phenotypes to: DLL1-related neurodevelopmental disorder with nonspecific brain abnormalities, with or without seizures, OMIM:618709, INTELLECTUAL DISABILITY, OMIM:616579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | DLL1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DLL1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.12 | DLL1 | Achchuthan Shanmugasundram reviewed gene: DLL1: Rating: RED; Mode of pathogenicity: ; Publications: 31353024; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | DLL1 | Rebecca Foulger reviewed gene: DLL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.129 | DLL1 |
Rebecca Foulger gene: DLL1 was added gene: DLL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DLL1 were set to 31353024 Phenotypes for gene: DLL1 were set to INTELLECTUAL DISABILITY 616579 |
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