1. Panels
  2. Intellectual disability
  3. WDR83OS
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: WDR83OS

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

4 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.
Panel Version: 8.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 24 Feb 2025, 6:15 p.m.
Last Modified: 24 Feb 2025, 6:15 p.m.
Panel version: 8.97

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #621016).
Created: 12 Mar 2025, 2:04 p.m. | Last Modified: 12 Mar 2025, 2:04 p.m.
Panel Version: 8.130
Comment on list classification: As reviewed by Zornitza Stark, there are nine unrelated families reported with biallelic WDR83OS variants and a neurodevelopmental disorder comprising intellectual disability/ developmental delay. Hence, this gene can be promoted to green rating in the next GMS update.
Created: 14 Nov 2024, 12:27 p.m. | Last Modified: 14 Nov 2024, 12:27 p.m.
Panel Version: 8.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
complex neurodevelopmental disorder, MONDO:0100038; intellectual disability, MONDO:0001071

Publications

Created: 14 Nov 2024, 12:23 p.m.
Last Modified: 14 Nov 2024, 12:23 p.m.
Panel version: 8.28

Zornitza Stark (Australian Genomics)

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: 11 Nov 2024, 6:07 a.m. | Last Modified: 11 Nov 2024, 6:07 a.m.
Panel Version: 8.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
complex neurodevelopmental disorder MONDO:0100038

Publications

Created: 11 Nov 2024, 6:07 a.m.
Last Modified: 11 Nov 2024, 6:07 a.m.
Panel version: 8.16

Ivone Leong (Genomics England Curator)

Red List (low evidence)

One consanguineous family with three affected individuals with homozygous split site variant in this gene. All three have ID.
Sources: Literature
Created: 7 Oct 2020, 1:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Publications

Created: 7 Oct 2020, 1:23 p.m.

Panel version: 3.381

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurodevelopmental disorder with variable familial hypercholanemia, OMIM:621016
Tags
gene-checked
Clinvar variants
Variants in WDR83OS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: WDR83OS were changed from complex neurodevelopmental disorder, MONDO:0100038; intellectual disability, MONDO:0001071 to Neurodevelopmental disorder with variable familial hypercholanemia, OMIM:621016

12 Mar 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: WDR83OS.

25 Feb 2025, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: WDR83OS.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to WDR83OS. Source Expert Review Green was added to WDR83OS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: wdr83os has been classified as Amber List (Moderate Evidence).

14 Nov 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: WDR83OS were changed from Intellectual disability to complex neurodevelopmental disorder, MONDO:0100038; intellectual disability, MONDO:0001071

14 Nov 2024, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: WDR83OS were set to 30250217

14 Nov 2024, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: WDR83OS.

7 Oct 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 Intellectual disability. 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 Intellectual disability Review for gene: WDR83OS was set to RED