TCTN1, tectonic family member 1, 79600

N. diseases: 82; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.610 GeneticVariation disease BEFREE Consistent with a shared function for complex components, we identified a mutation in TCTN1 that causes Joubert syndrome. 21725307 2011
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation disease CLINVAR
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.010 GeneticVariation disease BEFREE Reviewing the clinical data on patients with sequence variants in the tectonic genes TCTN1-3 reveals that all of them have a neurological phenotype with vermis hypoplasia or occipital encephalocele associated with severe intellectual disability in the surviving patients. 25118024 2015
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.010 GeneticVariation disease BEFREE Reviewing the clinical data on patients with sequence variants in the tectonic genes TCTN1-3 reveals that all of them have a neurological phenotype with vermis hypoplasia or occipital encephalocele associated with severe intellectual disability in the surviving patients. 25118024 2015
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.010 GeneticVariation disease BEFREE Consistent with this, Tctn3 mutant mice exhibit holoprosencephaly and randomized heart looping and lack the floor plate in the neural tube, the phenotypes similar to those of Tctn1 and Tctn2 mutants. 28800946 2017
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.010 GeneticVariation disease BEFREE In this report, we describe the phenotype of a patient with Varadi syndrome who is homozygous for a previously reported mutation in TCTN1 (NM_001082538.2:c.342-2A>G, p.Gly115Lysfs*8) and suggest that allelic disorders linked to TCTN1 include Varadi syndrome, in addition to Joubert syndrome and Meckel-Gruber syndrome. 28631893 2017
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		0.010 GeneticVariation disease BEFREE In this report, we describe the phenotype of a patient with Varadi syndrome who is homozygous for a previously reported mutation in TCTN1 (NM_001082538.2:c.342-2A>G, p.Gly115Lysfs*8) and suggest that allelic disorders linked to TCTN1 include Varadi syndrome, in addition to Joubert syndrome and Meckel-Gruber syndrome. 28631893 2017
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.010 GeneticVariation disease BEFREE In this report, we describe the phenotype of a patient with Varadi syndrome who is homozygous for a previously reported mutation in TCTN1 (NM_001082538.2:c.342-2A>G, p.Gly115Lysfs*8) and suggest that allelic disorders linked to TCTN1 include Varadi syndrome, in addition to Joubert syndrome and Meckel-Gruber syndrome. 28631893 2017
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.610 Biomarker disease GENOMICS_ENGLAND In this report, we describe the phenotype of a patient with Varadi syndrome who is homozygous for a previously reported mutation in TCTN1 (NM_001082538.2:c.342-2A>G, p.Gly115Lysfs*8) and suggest that allelic disorders linked to TCTN1 include Varadi syndrome, in addition to Joubert syndrome and Meckel-Gruber syndrome. 28631893 2017
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.610 Biomarker disease GENOMICS_ENGLAND We report the clinical and rehabilitative follow up of M, a female child carrying a compound heterozygous pathogenic mutations in the TCTN1 gene and affected by Joubert Syndrome (JS). 26489806 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.610 Biomarker disease GENOMICS_ENGLAND Our study, the largest comprehensive molecular series on JS, provides independent confirmation of the recently reported TCTN1, TMEM237, and C5ORF42 as bona fide JS disease genes, and expands the allelic heterogeneity of this disease. 22693042 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.610 Biomarker disease GENOMICS_ENGLAND Consistent with a shared function for complex components, we identified a mutation in TCTN1 that causes Joubert syndrome. 21725307 2011
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.610 Biomarker disease CTD_human Consistent with a shared function for complex components, we identified a mutation in TCTN1 that causes Joubert syndrome. 21725307 2011
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.500 Biomarker disease CTD_human A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. 21725307 2011
CUI: C3280031
Disease: JOUBERT SYNDROME 13
JOUBERT SYNDROME 13 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C3280031
Disease: JOUBERT SYNDROME 13
JOUBERT SYNDROME 13 		0.400 Biomarker disease GENOMICS_ENGLAND Molecular characterization of Joubert syndrome in Saudi Arabia. 22693042 2012
CUI: C3280031
Disease: JOUBERT SYNDROME 13
JOUBERT SYNDROME 13 		0.400 Biomarker disease GENOMICS_ENGLAND A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. 21725307 2011
CUI: C3280031
Disease: JOUBERT SYNDROME 13
JOUBERT SYNDROME 13 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND Molecular characterization of Joubert syndrome in Saudi Arabia. 22693042 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic 		0.300 Biomarker disease CTD_human Blood gene expression signatures predict exposure levels. 17984051 2007
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		0.300 Biomarker phenotype CTD_human Blood gene expression signatures predict exposure levels. 17984051 2007
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced 		0.300 Biomarker disease CTD_human Blood gene expression signatures predict exposure levels. 17984051 2007