Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26123
Gene Symbol: TCTN3
TCTN3
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.320 Biomarker 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
Entrez Id: 26123
Gene Symbol: TCTN3
TCTN3
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.320 Biomarker 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