×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.740
Biomarker
disease
BEFREE
In collaboration with the French National Center for Sequencing (CNS, Evry), all coding exons and flanking introns were sequenced for 27 ciliopathy genes (BBS1-12, MGC1203, TTC21b, AHI1, NPHP2-8 (NPHP6=BBS14), MKS1 (BBS13), MKS3, C2ORF86, SDCCAG8, ALMS1) in 96 patients referred with a clinical diagnosis of BBS .
22004009
2012
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.740
Biomarker
disease
BEFREE
To date, mutations in 12 BBS genes as well as in MKS1 and CEP290 have been identified as causing BBS .
19797195
2010
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.740
GeneticVariation
disease
BEFREE
Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome.
18327255
2008
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.740
Biomarker
disease
CTD_human
Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome.
18327255
2008
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.740
GermlineCausalMutation
disease
ORPHANET
Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome.
18327255
2008
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.740
GeneticVariation
disease
LHGDN
Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome.
18327255
2008
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.740
Biomarker
disease
GENOMICS_ENGLAND
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
16415886
2006
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.740
GeneticVariation
disease
BEFREE
To address this heterogenity, we sequenced the causative genes in MKS and BBS but no mutations in these five genes were identified.
15266619
2004
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.740
GeneticVariation
disease
CLINVAR
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
0.700
GeneticVariation
disease
BEFREE
Identification of BBS10 mutation along with AR and PDE6B gene mutation will expand the genetic and phenotypic spectrum in individuals with BBS .
31639430
2020
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
0.700
CausalMutation
disease
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
0.700
CausalMutation
disease
CLINVAR
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
30614526
2019
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
0.700
GeneticVariation
disease
BEFREE
Here we describe the successful generation of an induced pluripotent stem cell (iPSC) line KCi002-A from a male with BBS , homozygous for the disease causing variant c.271insT , p.(Cys91fsX95) in BBS10 .Resource table.
30312873
2018
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
0.700
Biomarker
disease
BEFREE
BBS1, BBS2 and BBS10 are major causative genes in Italian BBS patients.
28143435
2017
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
0.700
CausalMutation
disease
CLINVAR
A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak.
28808579
2017
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
0.700
CausalMutation
disease
CLINVAR
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
27486776
2016
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
0.700
CausalMutation
disease
CLINVAR
Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.
27788217
2016
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
0.700
CausalMutation
disease
CLINVAR
Bardet-Biedl Syndrome.
27385962
2016
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
0.700
CausalMutation
disease
CLINVAR
Bardet Biedl syndrome in South Africa: A single founder mutation.
27245532
2016
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
0.700
GeneticVariation
disease
CLINVAR
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
25982971
2015
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
0.700
CausalMutation
disease
CLINVAR
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
25982971
2015
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
0.700
Biomarker
disease
MGD
To date, 20 BBS genes have been identified with BBS10 being a major BBS gene found to be mutated in almost 20 percent of all BBS patients worldwide.
26273430
2015
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
0.700
CausalMutation
disease
CLINVAR
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
23591405
2014
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
0.700
GeneticVariation
disease
BEFREE
A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.
25439097
2014
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
0.700
CausalMutation
disease
CLINVAR
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.
24041679
2014