OFD1

Chr XXLDXLR

OFD1 centriole and centriolar satellite protein

Also known as: 71-7A, CXorf5, JBTS10, RP23, SGBS2

NCBI Gene: 8481 ENSG00000046651 UniProt: O75665 OMIM: 311200

OFD1 encodes a centrosomal protein that controls centriole length, recruits ciliary proteins, and regulates ciliogenesis and Wnt signaling during development. Mutations cause orofaciodigital syndrome type I, Joubert syndrome 10, Simpson-Golabi-Behmel syndrome type 2, and retinitis pigmentosa 23, with X-linked inheritance patterns affecting craniofacial, digital, neurological, and retinal systems. The gene is highly constrained against loss-of-function variants (pLI 0.96, LOEUF 0.32), reflecting its critical developmental role.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]

OMIM ResearchGenerating clinical summary…

LOFmechanismXLD/XLRLOEUF 0.325 OMIM phenotypes

Clinical Summary— OFD1

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Gene-Disease Validity (ClinGen)

OFD1-related ciliopathy · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.96). One damaged copy is likely sufficient to cause disease.

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