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| Skeletal dysplasia v0.135 | IFIH1 | Ain Roesley reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 31898846 28605144 26284909 28475458; Phenotypes: SINGLETON-MERTEN SYNDROME 1 (MIM# 182250); Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | IFIH1 |
Zornitza Stark gene: IFIH1 was added gene: IFIH1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFIH1 were set to 28319323; 25620204 Phenotypes for gene: IFIH1 were set to Singleton-Merten syndrome 1, 182250 Mode of pathogenicity for gene: IFIH1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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