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  3. WDR83OS
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Cholestasis

Gene: WDR83OS

Green List (high evidence)
WDR83OS (WD repeat domain 83 opposite strand)
EnsemblGeneIds (GRCh38): ENSG00000105583
EnsemblGeneIds (GRCh37): ENSG00000105583
WDR83OS is in 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Now 14 cases from 9 unrelated families with homozygous LoF variants, including the family reported in 2019. Consistent clinical features include NDD (14/14), facial dysmorphism (13/14), intractable itching (9/14), and elevated bile acids (5/6). Also, supporting null zebrafish model that recapitulates the human phenotype.
Created: 9 Nov 2024, 5:27 a.m. | Last Modified: 9 Nov 2024, 5:27 a.m.
Panel Version: 0.245

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
complex neurodevelopmental disorder MONDO:0100038; neurodevelopmental disorder with hypercholanemia

Publications

Created: 9 Nov 2024, 5:27 a.m.
Last Modified: 9 Nov 2024, 5:27 a.m.
Panel version: 0.245

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

- 1 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: 23 Apr 2020, 2:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis

Publications

Created: 23 Apr 2020, 2:52 a.m.

Panel version: 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with variable familial hypercholanemia, MIM# 621016
Clinvar variants
Variants in WDR83OS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WDR83OS were changed from complex neurodevelopmental disorder MONDO:0100038; neurodevelopmental disorder with hypercholanemia to Neurodevelopmental disorder with variable familial hypercholanemia, MIM# 621016

9 Nov 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: WDR83OS were changed from Cholestasis to complex neurodevelopmental disorder MONDO:0100038; neurodevelopmental disorder with hypercholanemia

9 Nov 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: WDR83OS were set to 39471804; 30250217

9 Nov 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: WDR83OS were set to 30250217

9 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: wdr83os has been classified as Green List (High Evidence).

23 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; 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