×
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
Jeune thoracic dystrophy
0.520
Biomarker
GENOMICS_ENGLAND
Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.
29847808 2018
×
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
Jeune thoracic dystrophy
0.520
GermlineCausalMutation
ORPHANET
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
25361962 2015
×
Entrez Id: 755
Gene Symbol: CFAP410
CFAP410
Jeune thoracic dystrophy
0.320
Biomarker
GENOMICS_ENGLAND
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
23105016 2013
×
Entrez Id: 755
Gene Symbol: CFAP410
CFAP410
Jeune thoracic dystrophy
0.320
Biomarker
GENOMICS_ENGLAND
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
26167768 2015
×
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
Jeune thoracic dystrophy
0.670
GermlineCausalMutation
ORPHANET
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
23339108 2013
×
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
Jeune thoracic dystrophy
0.670
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
Jeune thoracic dystrophy
0.670
GermlineCausalMutation
ORPHANET
To determine the contribution to JATD we screened DYNC2H1 in 71 JATD patients JATD patients combining SNP mapping, Sanger sequencing and exome sequencing.
23456818 2013
DYNC2LI1
Jeune thoracic dystrophy
0.300
GermlineCausalMutation
ORPHANET
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.
26077881 2015
×
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
Jeune thoracic dystrophy
0.820
GermlineCausalMutation
ORPHANET
We also report the identification of a homozygous recessive mutation in IFT140 in a Jeune syndrome patient.
24009529 2013
×
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
Jeune thoracic dystrophy
0.820
GermlineCausalMutation
ORPHANET
Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome .
22503633 2012
×
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
Jeune thoracic dystrophy
0.820
GermlineCausalMutation
ORPHANET
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
23418020 2013
×
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
Jeune thoracic dystrophy
0.820
Biomarker
GENOMICS_ENGLAND
Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome .
22503633 2012
×
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
Jeune thoracic dystrophy
0.500
Biomarker
GENOMICS_ENGLAND
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
24140113 2013
×
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
Jeune thoracic dystrophy
0.500
GermlineCausalMutation
ORPHANET
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
24140113 2013
×
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
Jeune thoracic dystrophy
0.610
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
Jeune thoracic dystrophy
0.610
GermlineCausalMutation
ORPHANET
IFT80 , which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy .17468754 2007
×
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
Jeune thoracic dystrophy
0.700
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
Jeune thoracic dystrophy
0.700
Biomarker
GENOMICS_ENGLAND
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
24876116 2014
×
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
Jeune thoracic dystrophy
0.700
GermlineCausalMutation
ORPHANET
Here we show that mutations in TTC21B , which encodes the retrograde intraflagellar transport protein IFT139 , cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy .
21258341 2011
×
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
Jeune thoracic dystrophy
0.700
Biomarker
CTD_human
Here we show that mutations in TTC21B , which encodes the retrograde intraflagellar transport protein IFT139 , cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy .
21258341 2011
×
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
Jeune thoracic dystrophy
0.700
GermlineCausalMutation
ORPHANET
Ciliary disorder of the skeleton.
22791528 2012
×
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
Jeune thoracic dystrophy
0.610
GermlineCausalMutation
ORPHANET
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
22019273 2011
×
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
Jeune thoracic dystrophy
0.610
GermlineCausalMutation
ORPHANET
Ciliary disorder of the skeleton.
22791528 2012
×
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
Jeune thoracic dystrophy
0.610
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 89891
Gene Symbol: WDR34
WDR34
Jeune thoracic dystrophy
0.620
GermlineCausalMutation
ORPHANET
Here, by using exome sequencing and a targeted next-generation sequencing panel, we identified a total of 11 mutations in WDR34 in 9 families with the clinical diagnosis of Jeune syndrome (asphyxiating thoracic dystrophy ).
24183451 2013