Comment on list classification: New gene added by Zornitza Stark. This gene has been given a Red rating as there is only one case available.
Created: 7 Oct 2020, 1:10 p.m. | Last Modified: 7 Oct 2020, 1:10 p.m.
Panel Version: 1.33
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.
Created: 2 May 2020, 2:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: wdr83os has been classified as Red List (Low Evidence).
gene: WDR83OS was added gene: WDR83OS was added to Cholestasis. Sources: Literature 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