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DDG2P v3.12 | EVC2 | Achchuthan Shanmugasundram reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16404586; Phenotypes: ACROFACIAL DYSOSTOSIS WEYERS TYPE, OMIM:193530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | EVC | Achchuthan Shanmugasundram reviewed gene: EVC: Rating: GREEN; Mode of pathogenicity: ; Publications: 7628126, 21815252, 10700184, 14217223, 12468274, 7218275, 12571802; Phenotypes: ACROFACIAL DYSOSTOSIS WEYERS TYPE, OMIM:193530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | EVC | Achchuthan Shanmugasundram Publications for gene: EVC were updated from 12468274; 7218275; 14217223; 7628126; 12571802; 10700184; 21815252 to 7628126; 21815252; 10700184; 14217223; 12468274; 7218275; 12571802 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | EVC2 | Rebecca Foulger reviewed gene: EVC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | EVC | Rebecca Foulger reviewed gene: EVC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | EVC2 |
Rebecca Foulger Added phenotypes ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530 for gene: EVC2 Publications for gene EVC2 were changed from to 16404586 |
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DDG2P v0.1 | EVC2 |
Rebecca Foulger gene: EVC2 was added gene: EVC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC2 were set to ELLIS-VAN CREVELD SYNDROME 225500 |
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DDG2P v0.1 | EVC |
Rebecca Foulger Added phenotypes ELLIS-VAN CREVELD SYNDROME 225500 for gene: EVC Publications for gene EVC were changed from to 12468274; 7218275; 14217223; 7628126; 12571802; 10700184; 21815252 |
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DDG2P v0.1 | EVC |
Rebecca Foulger gene: EVC was added gene: EVC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC were set to ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530 |