DDG2P
Gene: WDR44

WDR44 (WD repeat domain 44)
EnsemblGeneIds (GRCh38): ENSG00000131725
EnsemblGeneIds (GRCh37): ENSG00000131725
WDR44 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for WDR44-related ciliopathy are moderate, monoallelic_X_hemizygous and gain of function (PMID:38191484). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03758.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
MONDO:0005308; WDR44-related ciliopathy

Publications

38191484

Mode of pathogenicity
Other

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

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

MONDO:0005308
WDR44-related ciliopathy

Clinvar variants

Variants in WDR44

Penetrance

None

Publications

38191484

Mode of Pathogenicity

Other

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, Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

gene: WDR44 was added gene: WDR44 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR44 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: WDR44 were set to 38191484 Phenotypes for gene: WDR44 were set to MONDO:0005308; WDR44-related ciliopathy Mode of pathogenicity for gene: WDR44 was set to Other

DDG2P Gene: WDR44