Neonatal cholestasisGene: WDR83OS
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
Created: 16 Nov 2020, 11:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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