Cholestasis
Gene: WDR83OS

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

2 reviews

Ivone Leong (Genomics England Curator)

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

Created: 7 Oct 2020, 1:10 p.m.
Last Modified: 7 Oct 2020, 1:10 p.m.
Panel version: 1.33

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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
Created: 2 May 2020, 2:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis

Publications

30250217

Created: 2 May 2020, 2:20 a.m.

Panel version: 1.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

Cholestasis

Clinvar variants

Variants in WDR83OS

Penetrance

None

Publications

30250217

Panels with this gene

History Filter Activity

7 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: wdr83os has been classified as Red List (Low Evidence).

2 May 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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

Cholestasis Gene: WDR83OS