Neurological ciliopathies

Gene: WDR44

Green List (high evidence)

Comment on list classification: As there is sufficient evidence available for the association of WDR44 with phenotypes relevant for this panel, this gene can be promoted to green rating in the next GMS update.

Created: 6 Nov 2026, 11:38 a.m. | Last Modified: 6 Nov 2026, 11:38 a.m.

Panel Version: 7.4

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

• 38191484