Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Greig cephalopolysyndactyly syndrome
1.000 Biomarker disease BEFREE A robust gene-phenotype relationship between GLI3 and Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome has been well elucidated, and less is known about GLI3 mutation-caused isolated polydactyly. 30562203 2019
Greig cephalopolysyndactyly syndrome
1.000 GeneticVariation disease BEFREE Therefore, functional cDNA analysis confirmed that the haploinsufficiency of the GLI3 is the cause of GCPS in the affected family members. 31325247 2019
Greig cephalopolysyndactyly syndrome
1.000 Biomarker disease GENOMICS_ENGLAND Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly. 31115189 2019
Greig cephalopolysyndactyly syndrome
1.000 GeneticVariation disease BEFREE Mutations in different domains of the GLI3 gene underlie several congenital diseases including Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS). 29368652 2018
Greig cephalopolysyndactyly syndrome
1.000 CausalMutation disease CLINVAR GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families. 26508445 2016
Greig cephalopolysyndactyly syndrome
1.000 CausalMutation disease CLINVAR Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma. 27231705 2016
Greig cephalopolysyndactyly syndrome
1.000 GeneticVariation disease BEFREE The present study reports two cases: first, a familial case of Greig Cephalopolysyndactyly Syndrome (GCPS); the second is a sporadic case with both postaxial polydactyly (PAP) type A and B. Resequencing of GLI3 gene reveals a previously reported nonsense truncation mutation g.42007251G > A (p.R792X; rs121917714) in the GCPS family and a novel single nucleotide insertion g.42004239_42004240insA (p.E1478X) in the sporadic case of postaxial polydactyly (PAP). 26508445 2016
Greig cephalopolysyndactyly syndrome
1.000 CausalMutation disease CLINVAR Here we report on the molecular and clinical study of 76 cases from 55 families with either a GLI3 mutation (49 GCPS and 21 PHS), or a large deletion encompassing the GLI3 gene (6 GCPS cases). 24736735 2015
Greig cephalopolysyndactyly syndrome
1.000 Biomarker disease GENOMICS_ENGLAND Here we report on the molecular and clinical study of 76 cases from 55 families with either a GLI3 mutation (49 GCPS and 21 PHS), or a large deletion encompassing the GLI3 gene (6 GCPS cases). 24736735 2015
Greig cephalopolysyndactyly syndrome
1.000 GeneticVariation disease BEFREE Here we report on the molecular and clinical study of 76 cases from 55 families with either a GLI3 mutation (49 GCPS and 21 PHS), or a large deletion encompassing the GLI3 gene (6 GCPS cases). 24736735 2015
Greig cephalopolysyndactyly syndrome
1.000 Biomarker disease BEFREE GLI3 plays a predominant role in the pathogenesis of syndromic polydactyly: mutations have been identified in 68% of patients with Greig cephalopolysyndactyly syndrome and 91% of patients with Pallister-Hall syndrome. 24667698 2014
Greig cephalopolysyndactyly syndrome
1.000 GeneticVariation disease BEFREE A single patient with acrocallosal syndrome and a de novo p.Ala934Pro mutation in GLI3 has been reported, whereas diverse and numerous GLI3 mutations have also been described in syndromes with overlapping clinical manifestations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, trigonocephaly with craniosynostosis and polydactyly, oral-facial-digital syndrome, and non-syndromic polydactyly. 23633388 2013
Greig cephalopolysyndactyly syndrome
1.000 GeneticVariation disease BEFREE Mutations in the gene encoding the zinc finger transcription factor GLI3 (GLI-Kruppel family member 3) have been identified in patients with Grieg cephalopolysyndactyly syndrome in which premature fusion of calvarial suture (craniosynostosis) is an infrequent but important feature. 22547067 2012
Greig cephalopolysyndactyly syndrome
1.000 GeneticVariation disease BEFREE Our findings fully support previous genotype-phenotype correlations, showing that exonic deletions, missense mutations, as well as truncating variants localised out of the middle third of the GLI3 gene result in GCPS/PPD-IV and not PHS. 22903559 2012
Greig cephalopolysyndactyly syndrome
1.000 GeneticVariation disease BEFREE In all five children, the diagnosis of GCPS was confirmed by molecular analysis of GLI3 (two had intragenic mutations and three had complete gene deletions detected on array comparative genomic hybridisation), thus highlighting the importance of trigonocephaly or overt metopic or sagittal synostosis as a distinct presenting feature of GCPS. 21326280 2011
Greig cephalopolysyndactyly syndrome
1.000 GeneticVariation disease BEFREE This deleted region included GLI3 and GCK genes (where heterozygous mutations cause GCPS and MODY2, respectively), and many other contiguous genes. 22043488 2011
Greig cephalopolysyndactyly syndrome
1.000 GeneticVariation disease BEFREE The most important issue might be that GCPS and PHS exhibit an autosomal dominant trait, but mouse homologs, such as Pdn/Pdn, Xt(H)/Xt(H), Xt(J)/Xt(J) and Gli3(tmlUrt)/Gli3(tmlUrt), are autosomal recessive traits in the manifestation of similar phenotypes to human diseases. 20201963 2010
Greig cephalopolysyndactyly syndrome
1.000 Biomarker disease GENOMICS_ENGLAND Metopic craniosynostosis due to mutations in GLI3: A novel association. 20583172 2010
Greig cephalopolysyndactyly syndrome
1.000 CausalMutation disease CLINVAR Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. 20672375 2010
Greig cephalopolysyndactyly syndrome
1.000 GeneticVariation disease BEFREE The present findings provide an explanation for the pathogenesis of GCPS in patients carrying C-terminal point mutations, and close the gap in our understanding of how GLI3-genotypes give rise to particular phenotypes. 19829694 2009
Greig cephalopolysyndactyly syndrome
1.000 Biomarker disease CTD_human Greig cephalopolysyndactyly syndrome (GCPS) is a rare multiple congenital anomaly syndrome that is inherited in an autosomal dominant pattern and is caused by haploinsufficiency of the GLI3 gene. 18241058 2008
Greig cephalopolysyndactyly syndrome
1.000 GeneticVariation disease BEFREE Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above) and a GLI3 mutation may be diagnosed definitively with GCPS. 18435847 2008
Greig cephalopolysyndactyly syndrome
1.000 GeneticVariation disease BEFREE Greig cephalopolysyndactyly syndrome (GCPS) is a rare multiple congenital anomaly syndrome that is inherited in an autosomal dominant pattern and is caused by haploinsufficiency of the GLI3 gene. 18241058 2008
Greig cephalopolysyndactyly syndrome
1.000 GermlineCausalMutation disease ORPHANET The Greig cephalopolysyndactyly syndrome. 18435847 2008
Greig cephalopolysyndactyly syndrome
1.000 GeneticVariation disease BEFREE A novel syndrome, combining features of CCM and GCPS, can be added to the group of entities that result from deleterious genetic variants involving GLI3, including GCPS, acrocallosal syndrome, Pallister-Hall syndrome, and contiguous gene syndrome. 18154020 2007