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| DDG2P v3.12 | WAC | Achchuthan Shanmugasundram reviewed gene: WAC: Rating: GREEN; Mode of pathogenicity: ; Publications: 26264232, 26757981, 35018708; Phenotypes: Desanto-Shinawi syndrome, OMIM:616708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SRP54 | Achchuthan Shanmugasundram reviewed gene: SRP54: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28972538; Phenotypes: Syndromic neutropenia with Shwachman-Diamond-like features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SBDS | Achchuthan Shanmugasundram reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SHWACHMAN-DIAMOND SYNDROME, OMIM:260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WAC | Achchuthan Shanmugasundram Publications for gene: WAC were updated from 26264232 to 26264232; 26757981; 35018708 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WAC | Rebecca Foulger reviewed gene: WAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | WAC |
Rebecca Foulger Added phenotypes WAC syndrome for gene: WAC Publications for gene WAC were changed from 26757981 to 26264232 |
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| DDG2P v0.1 | WAC |
Rebecca Foulger gene: WAC was added gene: WAC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WAC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WAC were set to 26757981 Phenotypes for gene: WAC were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | SRP54 |
Rebecca Foulger gene: SRP54 was added gene: SRP54 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SRP54 were set to 28972538 Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features Mode of pathogenicity for gene: SRP54 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SBDS |
Rebecca Foulger gene: SBDS was added gene: SBDS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBDS were set to SHWACHMAN-DIAMOND SYNDROME 607444 |
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