Gene: OFD1

Alternate names for this Gene: 71-7A|CXorf5|JBTS10|RP23|SGBS2

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.2

Description of this Gene: OFD1 centriole and centriolar satellite protein

Type of Gene: protein-coding

rs312262830 in OFD1 gene and Abnormality of brain morphology PMID 24884629 2014 CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

rs1569102786 in OFD1 gene and Familial aplasia of the vermis PMID 16783569 2006 A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

PMID 27081566 2016 Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.

PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

PMID 24884629 2014 CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

PMID 23036093 2013 OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs312262830 in OFD1 gene and JOUBERT SYNDROME 10 (disorder) PMID 24884629 2014 CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs1555907034 in OFD1 gene and Movement Disorders PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

PMID 22353940 2012 Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.

PMID 19800048 2009 OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

PMID 22619378 2012 Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

PMID 19396822 2009 Are the oral-facial-digital syndromes ciliopathies?

PMID 23033313 2013 Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

PMID 27081566 2016 Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.

PMID 24884629 2014 CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

PMID 19876934 2009 The molecular basis of oral-facial-digital syndrome, type 1.

PMID 16311594 2006 Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.

PMID 15466260 2004 OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

PMID 10892847 2000 Evidence for a new locus for X-linked retinitis pigmentosa (RP23).

PMID 16783569 2006 A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

PMID 25238977 2014 Simpson-Golabi-Behmel syndrome types I and II.

rs1555907034 in OFD1 gene and Muscle hypotonia PMID 27081566 2016 Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.

PMID 24884629 2014 CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

PMID 25238977 2014 Simpson-Golabi-Behmel syndrome types I and II.

PMID 16783569 2006 A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

PMID 10892847 2000 Evidence for a new locus for X-linked retinitis pigmentosa (RP23).

PMID 19876934 2009 The molecular basis of oral-facial-digital syndrome, type 1.

PMID 22353940 2012 Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.

PMID 15466260 2004 OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

PMID 22619378 2012 Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

PMID 16311594 2006 Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.

PMID 23033313 2013 Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

PMID 19396822 2009 Are the oral-facial-digital syndromes ciliopathies?

PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

PMID 19800048 2009 OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

rs312262830 in OFD1 gene and Orofaciodigital Syndrome I PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

PMID 12595504 2003 OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.

PMID 11950863 2002 Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.

PMID 11179005 2001 Identification of the gene for oral-facial-digital type I syndrome.

PMID 16397067 2006 Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

PMID 23033313 2013 Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

rs312262830 in OFD1 gene and SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.