OFD1 Chromosome X
OFD1 centriole and centriolar satellite protein
Upload your DNA to see your personal genotypes for variants in OFD1.
What This Gene Does
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]
Associated Conditions (31)
Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia
OFD1-related disorder
Joubert syndrome 10
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Nonpapillary renal cell carcinoma
History of neurodevelopmental disorder
Congenital anomaly of kidney and urinary tract
Malignant tumor of urinary bladder
Retinal dystrophy
Rare genetic intellectual disability
Cervical cancer
Intellectual disability
Cerebral arteriopathy
autosomal dominant
with subcortical infarcts and leukoencephalopathy
type 1
Thyroid cancer
+11 more conditions
Key Variants
RS1191893961
Conflicting classifications of pathogenicity
Joubert syndrome, Orofaciodigital syndrome I, Primary ciliary dyskinesia
Health Risk
RS1254987046
Conflicting classifications of pathogenicity
OFD1-related disorder, Joubert syndrome, Orofaciodigital syndrome I
Health Risk
RS1260959326
Conflicting classifications of pathogenicity
Joubert syndrome 10, Joubert syndrome, Orofaciodigital syndrome I
Health Risk
RS1283023888
Conflicting classifications of pathogenicity
Orofaciodigital syndrome I, Joubert syndrome, Primary ciliary dyskinesia
Health Risk
RS1355239331
Conflicting classifications of pathogenicity
Joubert syndrome, Orofaciodigital syndrome I, Primary ciliary dyskinesia
Health Risk
RS1374240720
Conflicting classifications of pathogenicity
Joubert syndrome, Orofaciodigital syndrome I, OFD1-related disorder
Health Risk
RS139444990
Conflicting classifications of pathogenicity
Joubert syndrome, Orofaciodigital syndrome I, OFD1-related disorder
Health Risk
RS146251034
Conflicting classifications of pathogenicity
Orofaciodigital syndrome I, Joubert syndrome, History of neurodevelopmental disorder
Health Risk
RS147114577
Conflicting classifications of pathogenicity
Joubert syndrome, Orofaciodigital syndrome I, Primary ciliary dyskinesia
Health Risk
RS149473481
Conflicting classifications of pathogenicity
Joubert syndrome, Orofaciodigital syndrome I, Primary ciliary dyskinesia
Health Risk
RS149790559
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Orofaciodigital syndrome I, Joubert syndrome
Health Risk
RS150560046
Conflicting classifications of pathogenicity
Joubert syndrome, Orofaciodigital syndrome I, Primary ciliary dyskinesia
Health Risk
All Variants (176)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1131691619 | Health Risk | Pathogenic | — |
| RS122460150 | Health Risk | Pathogenic | Orofaciodigital syndrome I, Orofaciodigital syndrome I |
| RS1252017658 | Health Risk | Pathogenic | Orofaciodigital syndrome I, Joubert syndrome, Orofaciodigital syndrome I |
| RS1397283663 | Health Risk | Pathogenic | Orofaciodigital syndrome I, Joubert syndrome, Orofaciodigital syndrome I |
| RS1555901137 | Health Risk | Pathogenic | Orofaciodigital syndrome I, Orofaciodigital syndrome I |
| RS1555901146 | Health Risk | Pathogenic | Orofaciodigital syndrome I, Orofaciodigital syndrome I |
| RS1555902640 | Health Risk | Pathogenic | Joubert syndrome, Orofaciodigital syndrome I, Joubert syndrome |
| RS1555902866 | Health Risk | Pathogenic | Joubert syndrome, Orofaciodigital syndrome I, Joubert syndrome |
| RS1555906894 | Health Risk | Pathogenic | — |
| RS1555907034 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1569122408 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1569128307 | Health Risk | Pathogenic | Joubert syndrome, Orofaciodigital syndrome I, Joubert syndrome |
| RS1569141500 | Health Risk | Pathogenic | Joubert syndrome, Orofaciodigital syndrome I, Joubert syndrome |
| RS1569162748 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1569163423 | Health Risk | Pathogenic | Joubert syndrome, Primary ciliary dyskinesia, Joubert syndrome |
| RS1569164733 | Health Risk | Pathogenic | Joubert syndrome, Primary ciliary dyskinesia, Joubert syndrome |
| RS1569164829 | Health Risk | Pathogenic | Joubert syndrome, Primary ciliary dyskinesia, Joubert syndrome |
| RS180882901 | Health Risk | Pathogenic | Orofaciodigital syndrome I, Orofaciodigital syndrome I |
| RS2047298129 | Health Risk | Pathogenic | Joubert syndrome, Orofaciodigital syndrome I, Joubert syndrome |
| RS2047299277 | Health Risk | Pathogenic | Joubert syndrome 10, Joubert syndrome 10 |
| RS2047318775 | Health Risk | Pathogenic | Joubert syndrome, Orofaciodigital syndrome I, Joubert syndrome |
| RS2047724604 | Health Risk | Pathogenic | Orofaciodigital syndrome I, Orofaciodigital syndrome I |
| RS2047747647 | Health Risk | Pathogenic | Simpson-Golabi-Behmel syndrome type 2, Simpson-Golabi-Behmel syndrome type 2 |
| RS2047883109 | Health Risk | Pathogenic | Joubert syndrome, Orofaciodigital syndrome I, Joubert syndrome |
| RS2047910158 | Health Risk | Pathogenic | Orofaciodigital syndrome I, Orofaciodigital syndrome I |
| RS2146970113 | Health Risk | Pathogenic | Simpson-Golabi-Behmel syndrome type 2, Simpson-Golabi-Behmel syndrome type 2 |
| RS2146984250 | Health Risk | Pathogenic | Joubert syndrome, Orofaciodigital syndrome I, Joubert syndrome |
| RS2147027077 | Health Risk | Pathogenic | Simpson-Golabi-Behmel syndrome type 2, Retinitis pigmentosa 23, Joubert syndrome 10 |
| RS2147082213 | Health Risk | Pathogenic | Joubert syndrome, Orofaciodigital syndrome I, Primary ciliary dyskinesia |
| RS2147086219 | Health Risk | Pathogenic | — |
| RS2147086302 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2518758535 | Health Risk | Pathogenic | Orofaciodigital syndrome I, Joubert syndrome, Orofaciodigital syndrome I |
| RS2518759610 | Health Risk | Pathogenic | Joubert syndrome, Orofaciodigital syndrome I, Joubert syndrome |
| RS2518777731 | Health Risk | Pathogenic | Orofaciodigital syndrome I, Joubert syndrome, Orofaciodigital syndrome I |
| RS2518777923 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2518857883 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Orofaciodigital syndrome I, Joubert syndrome |
| RS2518886198 | Health Risk | Pathogenic | Orofaciodigital syndrome I, Joubert syndrome, Orofaciodigital syndrome I |
| RS2518886212 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Joubert syndrome, Orofaciodigital syndrome I |
| RS2518924877 | Health Risk | Pathogenic | Joubert syndrome, Orofaciodigital syndrome I, Kidney failure |
| RS2518940054 | Health Risk | Pathogenic | Joubert syndrome, Orofaciodigital syndrome I, Joubert syndrome |
| RS2518959653 | Health Risk | Pathogenic | Joubert syndrome, Orofaciodigital syndrome I, Joubert syndrome |
| RS312262809 | Health Risk | Pathogenic | Joubert syndrome, Orofaciodigital syndrome I, Joubert syndrome |
| RS312262810 | Health Risk | Pathogenic | Orofaciodigital syndrome I, Joubert syndrome, Simpson-Golabi-Behmel syndrome type 2 |
| RS312262811 | Health Risk | Pathogenic | — |
| RS312262818 | Health Risk | Pathogenic | Orofaciodigital syndrome I, Joubert syndrome, Orofaciodigital syndrome I |
| RS312262821 | Health Risk | Pathogenic | Orofaciodigital syndrome I, Orofaciodigital syndrome I |
| RS312262822 | Health Risk | Pathogenic | Orofaciodigital syndrome I, Orofaciodigital syndrome I |
| RS312262830 | Health Risk | Pathogenic | Joubert syndrome 10, Simpson-Golabi-Behmel syndrome type 2, Orofaciodigital syndrome I |
| RS312262833 | Health Risk | Pathogenic | Orofaciodigital syndrome I, Orofaciodigital syndrome I |
| RS312262834 | Health Risk | Pathogenic | Orofaciodigital syndrome I, Orofaciodigital syndrome I |