TCTN3, tectonic family member 3, 26123

N. diseases: 136; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406727
Disease: Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 		0.720 GeneticVariation disease BEFREE A previously described non-truncating sequence variant in TCTN3 was also associated with Joubert syndrome, whereas four truncating sequence variants were detected in patients with Meckel-Gruber or Mohr-Majewski syndrome. 25118024 2015
CUI: C0406727
Disease: Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 		0.720 Biomarker disease GENOMICS_ENGLAND A previously described non-truncating sequence variant in TCTN3 was also associated with Joubert syndrome, whereas four truncating sequence variants were detected in patients with Meckel-Gruber or Mohr-Majewski syndrome. 25118024 2015
CUI: C0406727
Disease: Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 		0.720 Biomarker disease GENOMICS_ENGLAND Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome). 22883145 2012
CUI: C0406727
Disease: Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 		0.720 CausalMutation disease CLINVAR Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome). 22883145 2012
CUI: C0406727
Disease: Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 		0.720 Biomarker disease GENOMICS_ENGLAND Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome). 22883145 2012
CUI: C0406727
Disease: Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 		0.720 GeneticVariation disease BEFREE TCTN3 mutations cause Mohr-Majewski syndrome. 22883145 2012
CUI: C0406727
Disease: Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 		0.720 GermlineCausalMutation disease ORPHANET Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome). 22883145 2012
CUI: C0406727
Disease: Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C0406727
Disease: Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 		0.720 Biomarker disease CTD_human
CUI: C3553758
Disease: JOUBERT SYNDROME 18
JOUBERT SYNDROME 18 		0.600 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C3553758
Disease: JOUBERT SYNDROME 18
JOUBERT SYNDROME 18 		0.600 Biomarker disease GENOMICS_ENGLAND Tectonic gene mutations in patients with Joubert syndrome. 25118024 2015
CUI: C3553758
Disease: JOUBERT SYNDROME 18
JOUBERT SYNDROME 18 		0.600 GeneticVariation disease UNIPROT TCTN3 mutations cause Mohr-Majewski syndrome. 22883145 2012
CUI: C3553758
Disease: JOUBERT SYNDROME 18
JOUBERT SYNDROME 18 		0.600 Biomarker disease GENOMICS_ENGLAND TCTN3 mutations cause Mohr-Majewski syndrome. 22883145 2012
CUI: C3553758
Disease: JOUBERT SYNDROME 18
JOUBERT SYNDROME 18 		0.600 Biomarker disease GENOMICS_ENGLAND TCTN3 mutations cause Mohr-Majewski syndrome. 22883145 2012
CUI: C3553758
Disease: JOUBERT SYNDROME 18
JOUBERT SYNDROME 18 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 Biomarker disease GENOMICS_ENGLAND TCTN3 mutations cause Mohr-Majewski syndrome. 22883145 2012
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 Biomarker disease HPO
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.320 GeneticVariation disease BEFREE A previously described non-truncating sequence variant in TCTN3 was also associated with Joubert syndrome, whereas four truncating sequence variants were detected in patients with Meckel-Gruber or Mohr-Majewski syndrome. 25118024 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.320 Biomarker disease GENOMICS_ENGLAND A previously described non-truncating sequence variant in TCTN3 was also associated with Joubert syndrome, whereas four truncating sequence variants were detected in patients with Meckel-Gruber or Mohr-Majewski syndrome. 25118024 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.320 GeneticVariation disease BEFREE Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and OFD IV syndromes and one homozygous missense mutation in a family with Joubert syndrome. 22883145 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.320 Biomarker disease GENOMICS_ENGLAND Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and OFD IV syndromes and one homozygous missense mutation in a family with Joubert syndrome. 22883145 2012
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		0.300 GermlineCausalMutation disease ORPHANET TCTN3 mutations cause Mohr-Majewski syndrome. 22883145 2012
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: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.300 Biomarker phenotype GENOMICS_ENGLAND