|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Meckel syndrome type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MKS is genetically heterogeneous with six known disease genes: MKS1, MKS2/TMEM216, MKS3/TMEM67, RPGRIP1L, CEP290, and CC2D2A with the encoded proteins all implicated in the correct function of primary cilia.
|
21110233 |
2011 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.
|
16415886 |
2006 |
|
Meckel syndrome type 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.
|
16415886 |
2006 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.
|
16415886 |
2006 |
|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.
|
16415886 |
2006 |
|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.
|
16415886 |
2006 |
|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.
|
16415886 |
2006 |
|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
A Meckel syndrome critical region (MKS1) maps to human Chromosome (Chr) 17, in a region of homology to mouse Chr 11.
|
15112103 |
2004 |
|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
A minority of the individuals with MKS1-related JS have MKS features.
|
26490104 |
2016 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
|
17437276 |
2007 |
|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome.
|
24643152 |
2014 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.
|
19515853 |
2009 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we report a cohort of 26 patients referred for genetic analysis of Joubert (JBTS) and Meckel-Gruber (MKS) syndromes, two clinically and genetically heterogeneous neurodevelopmental conditions that define a phenotypic spectrum, with MKS at the severe end.
|
26729329 |
2016 |
|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here we show that loss of function of mouse Mks1 results in an accurate model of human MKS, with structural abnormalities in the neural tube, biliary duct, limb patterning, bone development and the kidney that mirror the human syndrome.
|
19776033 |
2009 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.
|
27570071 |
2016 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
In contrast to the truncating mutations associated with MKS, all of the individuals with MKS1-related JS carry ≥ 1 non-truncating mutation.
|
26490104 |
2016 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In contrast to the truncating mutations associated with MKS, all of the individuals with MKS1-related JS carry ≥ 1 non-truncating mutation.
|
26490104 |
2016 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In our patient, a next generation sequencing (NGS) approach revealed the following two variants of the MKS1 gene: first, a novel missense variant [ c.240G > T (p.Trp80Cys)], which affects a residue that is evolutionarily highly conserved in mammals and ciliates; second, a 29 bp deletion in intron 15 [c.1408-35_1408-7del29], a founder mutation, which in a homozygous state constitutes the major cause of MKS in Finland.
|
27377014 |
2016 |
|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
In the case of prenatal ultrasound findings that are highly suggestive of MKS and a negative NGS MKS gene panel, WES should also be performed to not miss rare gene associations.
|
30851085 |
2019 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In two consanguineous families with classical MKS in which autozygome-guided sequencing of previously reported MKS genes was negative, we performed exome sequencing followed by autozygome filtration.
|
23349226 |
2013 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |