WDR19

WD repeat domain 19

3 disorders 3 causative 4p14 gene with protein product

HGNC:18340 Monarch NCBI Gene 57728 ENSG00000157796 UniProt Q8NEZ3 OMIM 608151

Aliases: Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13, FAP66, CFAP66.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Cranioectodermal Dysplasia	causative germline	mechanism: Intraflagellar Transport Dysfunction subtype: CED4 scoped to subtype: CED4
Nephronophthisis	causative	mechanism: Retrograde Intraflagellar Transport Defect subtype: WDR19-related scoped to subtype: WDR19-related
Senior-Loken Syndrome	causative	mechanism: Ciliary Transition Zone Dysfunction subtype: SLSN8 scoped to subtype: SLSN8

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
ciliopathy MONDO:0005308	AR	Definitive 2022-05-25	no dismech entry

Mechanism modules · computed from kb/

ciliopathy_dysfunction via Cranioectodermal Dysplasia, Senior-Loken Syndrome

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.