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Intellectual disability

Gene: WDR83

Amber List (moderate evidence)
WDR83 (WD repeat domain 83)
EnsemblGeneIds (GRCh38): ENSG00000123154
EnsemblGeneIds (GRCh37): ENSG00000123154
OMIM: 616850, Gene2Phenotype
WDR83 is in 1 panel

1 review

Ida Ertmanska (Genomics England Curator)

I don't know

Comment on list classification: There is 1 patient reported with GDD/ID, and 1 with ADHD - both individuals had heterozygous de novo missense variants in WDR83. There is some limited functional evidence in mice supporting WDR83 missense variants as causal in proliferation of neural stem cells. Based on available evidence, this gene can only be rated Amber at this time.
Created: 17 Mar 2026, 1:23 p.m. | Last Modified: 17 Mar 2026, 1:24 p.m.
Panel Version: 9.309
PMID: 41381792 Tabata et al., 2025
7yo Japanese female patient presenting with global developmental delay, intellectual disability, microcephaly, and dysmorphic features. Brain MRI at 7 months showed enlarged bilateral ventricles. WES detected a de novo heterozygous WDR83 variant [NM_001099737; c.653 T > C,p.(L218P)].

Functional: Overexpression of WDR83-L218P in mice via in utero electroporation led to reduced proliferation of neural stem cells. Suggested GOF mechanism of disease.

PMID: 28332277 Kim et al., 2017
ADHD proband with de novo heterozygous WDR83 p.Gly127Arg variant (MAF = 0.000002542 in gnomAD v4)

PMID: 37509073 Wulf et al., 2023 - Homozygous Wdr83 knockout (KO) mice die around embryonic day 11 due to severe defects in cell proliferation and massive apoptosis.
PMID: 19726548 Hammerschmidt, Loeffler & Wolf, 2009 - Heterozygous Wdr83+/- mice display a normal phenotype, with no apparent abnormalities in brain structure or cerebral vascular architecture

WDR83 is not yet associated with disease in OMIM, ClinGen, or G2P (accessed 17 Mar 2026).
Sources: Literature
Created: 17 Mar 2026, 1:17 p.m. | Last Modified: 17 Mar 2026, 1:27 p.m.
Panel Version: 9.309

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Created: 17 Mar 2026, 1:17 p.m.
Last Modified: 17 Mar 2026, 1:27 p.m.
Panel version: 9.309

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
OMIM
616850
Clinvar variants
Variants in WDR83
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2026, Gel status: 2

Set publications

Ida Ertmanska (Genomics England Curator)

Publications for gene: WDR83 were set to 28332277; 41381792

17 Mar 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: wdr83 has been classified as Amber List (Moderate Evidence).

17 Mar 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: WDR83 was added gene: WDR83 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: WDR83 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR83 were set to 28332277; 41381792 Phenotypes for gene: WDR83 were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: WDR83 was set to AMBER