1. Panels
  2. Neonatal cholestasis
  3. WDR83OS
STRs in panel
Prev Next

Neonatal cholestasis

Gene: WDR83OS

Red List (low evidence)
WDR83OS (WD repeat domain 83 opposite strand)
EnsemblGeneIds (GRCh38): ENSG00000105583
EnsemblGeneIds (GRCh37): ENSG00000105583
WDR83OS is in 4 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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

Phenotypes
Cholestasis

Publications

Created: 16 Nov 2020, 11:14 a.m.

Panel version: 1.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Cholestasis
Clinvar variants
Variants in WDR83OS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Nov 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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