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Intellectual disability

Gene: WDR44

Amber List (moderate evidence)
WDR44 (WD repeat domain 44)
EnsemblGeneIds (GRCh38): ENSG00000131725
EnsemblGeneIds (GRCh37): ENSG00000131725
WDR44 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As there is sufficient evidence available for the association of WDR44 with intellectual disability, this gene can be promoted to green rating in the next GMS update.
Created: 6 Nov 2026, 11:40 a.m. | Last Modified: 6 Nov 2026, 11:40 a.m.
Panel Version: 11.90
WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking.

PMID:38191484 (2024) reported the identification of seven different missense and one nonsense variants in WDR44 gene in 11 male patients from nine families that displayed ciliopathy-related developmental disorder. The patient phenotypic spectrum included developmental delay/intellectual disability, hypotonia, distinct craniofacial features and variable presence of brain, renal, cardiac and musculoskeletal abnormalities.

ID was moderate in three unrelated patients, while mild in five unrelated patients. Learning disability was reported in three patients from two families. Abnormalities in brain MRI findings including CC hypoplasia, enlarged CSF spaces and/ or ventriculomegaly were reported in nine patients from seven families. Severe microcephaly (OFC <-3 SD below mean) were only reported in two unrelated patients.

Upper limb abnormalities including Brachydactyly were reported in six patients from four families, spine abnormalities such as scoliosis were reported in three patients from two families, and lower limb abnormalities such as congenital hip dislocation and/ or toes syndactyly were reported eight patients from six families.

There is also supporting functional evidence available from patient fibroblasts and zebrafish models.

This gene has been associated with relevant phenotype in Gene2Phenotype (with 'moderate' rating on the DD panel), but not yet in OMIM (records last accessed on 06 November 2026).
Sources: Literature
Created: 6 Nov 2026, 11:34 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Ciliopathy, MONDO:0005308

Publications

Created: 6 Nov 2026, 11:34 a.m.

Panel version: 11.89

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ciliopathy, MONDO:0005308
Tags
Q4_26_promote_green
Clinvar variants
Variants in WDR44
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Nov 2026, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: wdr44 has been classified as Amber List (Moderate Evidence).

6 Nov 2026, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_26_promote_green tag was added to gene: WDR44.

6 Nov 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: WDR44 was added gene: WDR44 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: WDR44 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: WDR44 were set to 38191484 Phenotypes for gene: WDR44 were set to Ciliopathy, MONDO:0005308 Review for gene: WDR44 was set to GREEN