Gene: CPLANE1

Alternate names for this Gene: C5orf42|Hug|JBTS17|OFD6

Gene Summary: The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS).

Gene is located in Chromosome: 5

Location in Chromosome : 5p13.2

Description of this Gene: ciliogenesis and planar polarity effector 1

Type of Gene: protein-coding

rs300053 in CPLANE1 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs1554117456 in CPLANE1 gene and Dysmorphic features PMID 24178751 2014 C5orf42 is the major gene responsible for OFD syndrome type VI.

PMID 25846457 2015 Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

PMID 25407461 2015 Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

PMID 21679365 2011 The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.

PMID 22236771 2012 Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

rs1321423759 in CPLANE1 gene and JOUBERT SYNDROME 17 PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

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

PMID 28431631 2017 Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.

PMID 27434533 2016 Molecular genetic analysis of 30 families with Joubert syndrome.

PMID 24178751 2014 C5orf42 is the major gene responsible for OFD syndrome type VI.

PMID 24091540 2013 Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

PMID 29321670 2018 Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.

PMID 23012439 2012 Mutations in TMEM231 cause Joubert syndrome in French Canadians.

PMID 26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

PMID 25920555 2016 Joubert syndrome: genotyping a Northern European patient cohort.

PMID 28289185 2017 Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

PMID 25407461 2015 Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

PMID 28125082 2017 Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.

rs1554117456 in CPLANE1 gene and Multiple congenital anomalies PMID 25407461 2015 Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

PMID 24178751 2014 C5orf42 is the major gene responsible for OFD syndrome type VI.

PMID 25846457 2015 Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

PMID 21679365 2011 The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

PMID 22236771 2012 Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

rs1554117456 in CPLANE1 gene and Muscle hypotonia PMID 25407461 2015 Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

PMID 21679365 2011 The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.

PMID 22236771 2012 Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

PMID 25846457 2015 Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

PMID 24178751 2014 C5orf42 is the major gene responsible for OFD syndrome type VI.

rs1321423759 in CPLANE1 gene and OROFACIODIGITAL SYNDROME VI PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

PMID 25846457 2015 Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

PMID 24178751 2014 C5orf42 is the major gene responsible for OFD syndrome type VI.

PMID 27081551 2015 Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies.

PMID 27434533 2016 Molecular genetic analysis of 30 families with Joubert syndrome.

PMID 28431631 2017 Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.

PMID 21448235 2011 Clinical utility gene card for: Joubert syndrome.

PMID 24091540 2013 Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

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

PMID 28289185 2017 Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

PMID 25920555 2016 Joubert syndrome: genotyping a Northern European patient cohort.

PMID 25407461 2015 Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

PMID 28125082 2017 Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.