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| Neonatal cholestasis v1.16 | WDR83OS |
Ivone Leong gene: WDR83OS was added gene: WDR83OS was added to Neonatal cholestasis. Sources: Expert Review Mode of inheritance for gene: WDR83OS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR83OS were set to 30250217 Phenotypes for gene: WDR83OS were set to Cholestasis Review for gene: WDR83OS was set to RED Added comment: New gene added by Zornitza Stark on the Cholestasis panel. This gene has been given a Red rating as there is only one case available. "One consanguineous family with 3 affected individuals found to carry a homozygous splice site variant in WDR83OS. The variant results in an aberrant truncated RNA transcript as demonstrated by RT-PCR. Sources: Literature Zornitza Stark (Australian Genomics), 2 May 2020" Sources: Expert Review |
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