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Likely inborn error of metabolism - targeted testing not possible v1.76 | RTN4IP1 |
Sarah Leigh Source Expert Review Green was added to RTN4IP1. Mode of inheritance for gene RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 for gene: RTN4IP1 Publications for gene RTN4IP1 were changed from to 28638143; 26593267; 29181510 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RTN4IP1 |
Ellen McDonagh gene: RTN4IP1 was added gene: RTN4IP1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: RTN4IP1 was set to Unknown |