×
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
Polydactyly
0.700
Biomarker
GENOMICS_ENGLAND
Pathogenic mutations in the GLI3 gene (glioma-associated oncogene family zinc finger 3 ) have been associated with both nonsyndromic and syndromic polydactyly .
31115189 2019
KIAA0586
Polydactyly
0.510
Biomarker
GENOMICS_ENGLAND
KIAA0586 is Mutated in Joubert Syndrome.
26096313 2015
×
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
Polydactyly
0.500
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13
Polydactyly
0.450
Biomarker
GENOMICS_ENGLAND
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
17236141 2007
×
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
Polydactyly
0.440
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
Polydactyly
0.430
Biomarker
GENOMICS_ENGLAND
Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus.
29458881 2018
×
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Polydactyly
0.430
Biomarker
GENOMICS_ENGLAND
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
16415886 2006
×
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Polydactyly
0.430
Biomarker
GENOMICS_ENGLAND
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
16415886 2006
×
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Polydactyly
0.430
Biomarker
GENOMICS_ENGLAND
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
16415886 2006
×
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
Polydactyly
0.430
Biomarker
GENOMICS_ENGLAND
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
14581620 2003
×
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
Polydactyly
0.430
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 727857
Gene Symbol: BHLHA9
BHLHA9
Polydactyly
0.420
Biomarker
GENOMICS_ENGLAND
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
22147889 2012
×
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Polydactyly
0.420
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
Polydactyly
0.410
Biomarker
GENOMICS_ENGLAND
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
24886560 2014
×
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Polydactyly
0.410
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Polydactyly
0.410
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 3930
Gene Symbol: LBR
LBR
Polydactyly
0.400
Biomarker
GENOMICS_ENGLAND
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
29068549 2018
×
Entrez Id: 11020
Gene Symbol: IFT27
IFT27
Polydactyly
0.400
Biomarker
GENOMICS_ENGLAND
Here we describe a fetus with an unclassified severe ciliopathy phenotype including short ribs, polydactyly , bilateral renal agenesis, and imperforate anus, with compound heterozygosity for c.118_125del, p.(Thr40Glyfs*11) and a c.352 +1G > T in IFT27 , which encodes a small GTPase component of the IFT-B complex.
29704304 2018
×
Entrez Id: 6608
Gene Symbol: SMO
SMO
Polydactyly
0.400
Biomarker
GENOMICS_ENGLAND
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
27236920 2016
×
Entrez Id: 26123
Gene Symbol: TCTN3
TCTN3
Polydactyly
0.400
Biomarker
GENOMICS_ENGLAND
TCTN3 mutations cause Mohr-Majewski syndrome.
22883145 2012
×
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
Polydactyly
0.400
Biomarker
GENOMICS_ENGLAND
Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.
19858128 2010
×
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
Polydactyly
0.400
Biomarker
GENOMICS_ENGLAND
Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome.
19011570 2009
×
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32
Polydactyly
0.400
Biomarker
GENOMICS_ENGLAND
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).
16606853 2006
×
Entrez Id: 10682
Gene Symbol: EBP
EBP
Polydactyly
0.400
Biomarker
GENOMICS_ENGLAND
Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).
12509714 2003
×
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Polydactyly
0.400
Biomarker
GENOMICS_ENGLAND
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
11567139 2001