DDG2P
Gene: WDR83OS

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for WDR83OS-related neurodevelopmental disorder with hypercholanemia are moderate, biallelic_autosomal and loss of function (PMIDs: 30250217, 39471804). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03782.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
WDR83OS-related neurodevelopmental disorder with hypercholanemia; MONDO:0975877

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

MONDO:0975877
WDR83OS-related neurodevelopmental disorder with hypercholanemia

Clinvar variants

Variants in WDR83OS

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: WDR83OS was added gene: WDR83OS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR83OS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR83OS were set to 39471804; 30250217 Phenotypes for gene: WDR83OS were set to MONDO:0975877; WDR83OS-related neurodevelopmental disorder with hypercholanemia

DDG2P Gene: WDR83OS