OFD1

Chr XXLDXLR

OFD1 centriole and centriolar satellite protein

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

NCBI Gene: 8481ENSG00000046651UniProt: O75665OMIM: 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.

OMIMResearchSummary from RefSeq, OMIM, UniProt
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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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.32LOEUF
pLI 0.960
Z-score 4.91
OE 0.17 (0.10–0.32)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
0.32Z-score
OE missense 0.95 (0.87–1.04)
350 obs / 367.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.17 (0.10–0.32)
0≤0.351.4
Missense OE0.95 (0.87–1.04)
0≤0.61.4
Synonymous OE1.06
0≤1.21.6
LoF obs/exp: 7 / 40.9Missense obs/exp: 350 / 367.2Syn Z: -0.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OFD1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
CCHCR1 links P-body proteins to the centrosome and is required for ciliogenesis through interacting with OFD1 and PCM1.
Zhang J et al.·Cell Mol Biol Lett
2025Open Access
OFD1 inhibition induces BRCAness to create a therapeutic vulnerability to PARP inhibition in pancreatic cancer.
Li P et al.·Nat Commun
2025Open Access
[Analysis of OFD1 gene variant in a child with Oral-facial-digital syndrome].
Zhang L et al.·Zhonghua Yi Xue Yi Chuan Xue Za Zhi
2025
A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa.
Chen L et al.·Pharmgenomics Pers Med
2025Open Access
Conservation of OFD1 Protein Motifs: Implications for Discovery of Novel Interactors and the OFD1 Function.
Jagodzik P et al.·Int J Mol Sci
2025Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients