Genes in panel

Fetal anomalies

Gene: WDR83

Red List (low evidence)

WDR83 (WD repeat domain 83)
EnsemblGeneIds (GRCh38): ENSG00000123154
EnsemblGeneIds (GRCh37): ENSG00000123154
OMIM: 616850, Gene2Phenotype
WDR83 is in 2 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26

Vicki Harrison (Wessex Clinical Genetics Service)

Red List (low evidence)

not on panelapp.1 patient with ID, GDD, dysmorphism. Other reports of contributing to ADHD.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Details

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

History Filter Activity

29 Oct 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 Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: WDR83 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR83 were set to 4138179 Phenotypes for gene: WDR83 were set to neurodevelopmental disorder, MONDO:0700092