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| DDG2P v3.12 | EPB41L1 | Achchuthan Shanmugasundram reviewed gene: EPB41L1: Rating: RED; Mode of pathogenicity: Other; Publications: 21376300; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EPB41L1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene EPB41L1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EPB41L1 | Rebecca Foulger reviewed gene: EPB41L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EPB41L1 |
Rebecca Foulger gene: EPB41L1 was added gene: EPB41L1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: EPB41L1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EPB41L1 were set to 21376300 Phenotypes for gene: EPB41L1 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: EPB41L1 was set to Other - please provide details in the comments |
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