×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
GeneticVariation
disease
CLINVAR
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
CLINVAR
Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases.
12368986
2002
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
Biomarker
disease
GENOMICS_ENGLAND
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
16415887
2006
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
Biomarker
disease
BEFREE
After mutation analysis of MKS1 and MKS3 in a series of patients with JS (n=22), we identified MKS3 mutations in four patients with JS , thus defining MKS3 as the sixth JS locus (JBTS6 ).
17160906
2007
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
GermlineCausalMutation
disease
ORPHANET
The Meckel-Gruber syndrome gene, MKS3 , is mutated in Joubert syndrome .
17160906
2007
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
CLINVAR
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
17377820
2007
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
CLINVAR
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
17397051
2007
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
Biomarker
disease
BEFREE
Nephronophthisis (NPHP) is found in 17-27% of these patients, which was designated JS type B. Mutations in four separate genes (AHI1, NPHP1, CEP290/NPHP6, and MKS3 ) are linked to JS .
17960139
2007
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
Biomarker
disease
GENOMICS_ENGLAND
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
18327255
2008
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
CLINVAR
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
19058225
2009
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
Biomarker
disease
BEFREE
Mutations of MKS3/TMEM67 , found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS ) type 6, are predominantly truncating mutations.
19508969
2009
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
CLINVAR
Mutations of MKS3/TMEM67 , found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS ) type 6, are predominantly truncating mutations.
19508969
2009
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
Biomarker
disease
GENOMICS_ENGLAND
Mutations of MKS3/TMEM67 , found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS ) type 6, are predominantly truncating mutations.
19508969
2009
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
CLINVAR
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
19540516
2009
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
CLINVAR
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
19574260
2010
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
CLINVAR
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
20232449
2010
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
CLINVAR
Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations.
20607301
2010
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
Biomarker
disease
GENOMICS_ENGLAND
Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations.
20607301
2010
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
CLINVAR
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
21068128
2011
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
CLINVAR
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
21866095
2011
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
Biomarker
disease
BEFREE
In humans, mutations in TMEM67 (also known as MKS3 ) cause both MKS and JBTS , with TMEM67 encoding the orphan receptor meckelin (TMEM67 ) that localizes to the ciliary transition zone.
23283079
2013
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
GeneticVariation
disease
BEFREE
TMEM67 mutation (MKS3 ) is a major cause of MKS and the related ciliopathy Joubert syndrome , although the complete etiology of the disease is not well understood.
23393159
2013
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
CLINVAR
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
23559409
2013
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
CLINVAR
Joubert syndrome: genotyping a Northern European patient cohort.
25920555
2016
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
CLINVAR
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.
26035863
2015