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DDG2P v3.12 | EDN1 | Achchuthan Shanmugasundram reviewed gene: EDN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24268655; Phenotypes: QUESTION MARK EARS, ISOLATED, OMIM:612798, AURICULOCONDYLAR SYNDROME, OMIM:602483; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | EDN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to EDN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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DDG2P v0.2 | EDN1 | Rebecca Foulger reviewed gene: EDN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | EDN1 | Rebecca Foulger Added phenotypes AURICULOCONDYLAR SYNDROME 602483 for gene: EDN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | EDN1 |
Rebecca Foulger gene: EDN1 was added gene: EDN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EDN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EDN1 were set to 24268655 Phenotypes for gene: EDN1 were set to AURICULOCONDYLAR SYNDROME 602483 |