CPLANE1 (ciliogenesis and planar polarity effector 1)

2018-11-01 Affiliation

HGNC

CPLANE1

LOCATION

5p13.2

LOCUSID

65250

ALIAS

C5orf42,Hug,JBTS17,OFD6

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

dbSNP: 65250
ClinVar: 65250
TCGA: ENSG00000197603
COSMIC: CPLANE1

Pubmed ID	Year	Title	Citations
22425360	2012	Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.	38
23169490	2013	Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.	25
24178751	2014	C5orf42 is the major gene responsible for OFD syndrome type VI.	24
25407461	2015	Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?	9
22264561	2012	Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy.	5
25846457	2015	Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.	2
28431631	2017	Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.	2
29605658	2018	Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.	1
31004438	2019	Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis.	0
32335874	2020	[Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome].	0

Dessen P

CPLANE1 (ciliogenesis and planar polarity effector 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01