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Limb disorders v1.110 | IFT74 |
Eleanor Williams gene: IFT74 was added gene: IFT74 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to 27486776 Phenotypes for gene: IFT74 were set to ?Bardet-Biedl syndrome 20 617119 Review for gene: IFT74 was set to RED Added comment: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. Adding gene as red as it is red on the GMS Bardet Biedl syndrome panel (v1.0). Only 1 case reported plus animal model. Sources: Expert list |