MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Disease: Meckel syndrome type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714506
Disease: Meckel syndrome type 1
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
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 Biomarker disease BEFREE We also examined the relationship between the MKS complex and IFT proteins by analyzing double mutant between Mks1 and a hypomorphic allele of the IFTB component Ift172. 28291807 2017
CUI: C3714506
Disease: Meckel syndrome type 1
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
CUI: C3714506
Disease: Meckel syndrome type 1
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
CUI: C3714506
Disease: Meckel syndrome type 1
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
CUI: C3714506
Disease: Meckel syndrome type 1
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
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 Biomarker disease BEFREE The TZ is known to harbour two functional modules/complexes (Meckel syndrome [MKS] and Nephronophthisis [NPHP]) defined by genetic interaction, interdependent protein localisation (hierarchy), and proteomic studies. 26982032 2016
CUI: C3714506
Disease: Meckel syndrome type 1
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
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 Biomarker disease BEFREE A minority of the individuals with MKS1-related JS have MKS features. 26490104 2016
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease BEFREE Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 24886560 2014
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease CLINVAR Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 24886560 2014
CUI: C3714506
Disease: Meckel syndrome type 1
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
CUI: C3714506
Disease: Meckel syndrome type 1
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
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 Biomarker disease BEFREE This novel model system offers insights into the role of MKS1 in Wnt signalling and proliferation, and the impact of deregulation of these processes on brain and kidney development in MKS, as well as expanding our understanding of the role of Mks1 in multiple signalling pathways. 23454480 2013
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 Biomarker disease GENOMICS_ENGLAND This novel model system offers insights into the role of MKS1 in Wnt signalling and proliferation, and the impact of deregulation of these processes on brain and kidney development in MKS, as well as expanding our understanding of the role of Mks1 in multiple signalling pathways. 23454480 2013
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease BEFREE The exclusion of this and the other seven MKS genes in our collection of consanguineous Arab MKS families confirms the existence of two additional MKS loci. 21462283 2011
CUI: C3714506
Disease: Meckel syndrome type 1
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
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease BEFREE To date, six genes have been commonly associated with MKS (MKS1, TMEM67, TMEM216, CEP290, CC2D2A and RPGRIP1L). 21493627 2011
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease BEFREE Mouse mutations in either Mks1 or B9d2 compromise ciliogenesis and result in phenotypes similar to those of MKS. 21763481 2011
CUI: C3714506
Disease: Meckel syndrome type 1
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
CUI: C3714506
Disease: Meckel syndrome type 1
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
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease UNIPROT Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 19466712 2009
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 Biomarker disease BEFREE The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. 17185389 2007