Activity
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| DDG2P v5.26 | NECTIN1 | Achchuthan Shanmugasundram Phenotypes for gene: NECTIN1 were changed from CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME 225060 to NECTIN1-related cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.25 | NECTIN1 | Achchuthan Shanmugasundram edited their review of gene: NECTIN1: Changed phenotypes to: NECTIN1-related cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | NECTIN1 | Achchuthan Shanmugasundram edited their review of gene: NECTIN1: Added comment: The DDG2P confidence category for the disease NECTIN1-related cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 10932188).; Changed rating: GREEN; Changed phenotypes to: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME, OMIM:225060, NECTIN1-related cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | NECTIN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NECTIN1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.12 | NECTIN1 | Achchuthan Shanmugasundram reviewed gene: NECTIN1: Rating: RED; Mode of pathogenicity: ; Publications: 10932188; Phenotypes: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME, OMIM:225060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NECTIN1 | Rebecca Foulger reviewed gene: NECTIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NECTIN1 |
Rebecca Foulger gene: NECTIN1 was added gene: NECTIN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NECTIN1 were set to 10932188 Phenotypes for gene: NECTIN1 were set to CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME 225060 |
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