GLI3 gene related symptoms and diseases
All the information presented here about the GLI3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GLI3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Postaxial hand polydactyly | Common - Between 50% and 80% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Macrocephaly | Uncommon - Between 30% and 50% cases |
| Global developmental delay | Uncommon - Between 30% and 50% cases |
| Neoplasm | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GLI3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Polydactyly
- Hip dislocation
- Micropenis
- Postaxial polydactyly
- Hypospadias
- Cryptorchidism
Rarely - Less than 30% cases
- Preaxial polydactyly
- Cleft palate
And 293 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GLI3 gene
Here you will find a list of rare diseases related to the GLI3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACROCALLOSAL SYNDROME
Alternate names
ACROCALLOSAL SYNDROME Is also known as acs
Description
Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.
Most common symptoms of ACROCALLOSAL SYNDROME
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Hypertelorism
More info about ACROCALLOSAL SYNDROME
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
Alternate names
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME Is also known as polysyndactyly with peculiar skull shape, gcps
Description
Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.
Most common symptoms of GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Hypertelorism
- Cryptorchidism
More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
GASTROINTESTINAL STROMAL TUMOR
Alternate names
GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma, gist
Description
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.
Most common symptoms of GASTROINTESTINAL STROMAL TUMOR
- Neoplasm
- Pain
- Anemia
- Fever
- Fatigue
More info about GASTROINTESTINAL STROMAL TUMOR
PALLISTER-HALL SYNDROME
Alternate names
PALLISTER-HALL SYNDROME Is also known as hypothalamic hamartoblastoma syndrome
Description
Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.
Most common symptoms of PALLISTER-HALL SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Hypertelorism
- Cleft palate
More info about PALLISTER-HALL SYNDROME
SOURCES: ORPHANET
HYPOTHALAMIC HAMARTOMAS
Most common symptoms of HYPOTHALAMIC HAMARTOMAS
- Neoplasm
- Micrognathia
- Cleft palate
- Depressed nasal bridge
- Macrocephaly
More info about HYPOTHALAMIC HAMARTOMAS
PALLISTER-HALL SYNDROME; PHS
Alternate names
PALLISTER-HALL SYNDROME; PHS Is also known as hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly
Description
Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996).
Most common symptoms of PALLISTER-HALL SYNDROME; PHS
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Growth delay
More info about PALLISTER-HALL SYNDROME; PHS
HIRSCHSPRUNG DISEASE
Alternate names
HIRSCHSPRUNG DISEASE Is also known as hscr, aganglionic megacolon, congenital intestinal aganglionosis, hirschsprung disease, megacolon, aganglionic, mgc
Description
Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.
Most common symptoms of HIRSCHSPRUNG DISEASE
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
More info about HIRSCHSPRUNG DISEASE
TIBIAL HEMIMELIA
Alternate names
TIBIAL HEMIMELIA Is also known as congenital aplasia and dysplasia of the tibia with intact fibula, congenital absence of tibia, thm, tibial longitudinal meromelia, congenital longitudinal deficiency of the tibia, tibia, absence of
Description
Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.
Most common symptoms of TIBIAL HEMIMELIA
- Abnormality of the skeletal system
- Cleft lip
- Split hand
- Triphalangeal thumb
- Ectrodactyly
More info about TIBIAL HEMIMELIA
POLYSYNDACTYLY
Alternate names
POLYSYNDACTYLY Is also known as preaxial polydactyly type 4, polysyndactyly, uncomplicated, ppd4
Description
Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.
Most common symptoms of POLYSYNDACTYLY
- Preaxial polydactyly
- Abnormality of earlobe
- 3-4 finger syndactyly
- Dysplastic distal thumb phalanges with a central hole
- 1-5 toe syndactyly
More info about POLYSYNDACTYLY
POSTAXIAL POLYDACTYLY TYPE B
POSTAXIAL POLYDACTYLY TYPE A
Alternate names
POSTAXIAL POLYDACTYLY TYPE A Is also known as postaxial polydactyly, type a, papa, polydactyly, postaxial
Description
Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012).
Most common symptoms of POSTAXIAL POLYDACTYLY TYPE A
- Syndactyly
- Polydactyly
- Abnormality of the foot
- Postaxial polydactyly
- Postaxial hand polydactyly
More info about POSTAXIAL POLYDACTYLY TYPE A
Search interest in GLI3
Potential gene panels for GLI3 gene
NGS Overgrowth/Macrocephaly Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Overgrowth/Macrocephaly Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 UPF3B RNF135 CUL4B DNMT3A EZH2 GLI3
More info about this panel United States.
GLI3-related Disorders Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the GLI3 gene.
More info about this panel United States.
Comprehensive Brain Malformation Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8
More info about this panel United States.
Craniosynostosis Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Craniosynostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 ASXL1 WDR19 WDR35 IFT43
More info about this panel United States.
Macrocephaly Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Macrocephaly that also includes the following genes: MED12 NSD1 PHF6 UPF3B CUL4B EZH2 GLI3 NFIX PIK3CA PTCH1
More info about this panel United States.
Anophthalmia/microphthalmia Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anophthalmia/microphthalmia that also includes the following genes: BMP4 SIX6 SOX2 TFAP2A VAX1 ALX1 PORCN MFRP RAX VSX2
More info about this panel Denmark.
Macrocephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Macrocephaly Deletion/Duplication Panel that also includes the following genes: MED12 NSD1 RAB39B BRWD3 SETD2 RIN2 UPF3B TBC1D7 RNF125 RNF135
More info about this panel United States.
Hypospadias Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2
More info about this panel United States.
Macrocephaly Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Macrocephaly Sequencing Panel that also includes the following genes: MED12 NSD1 RAB39B BRWD3 SETD2 RIN2 UPF3B TBC1D7 RNF125 RNF135
More info about this panel United States.
Craniofacial Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Craniofacial Sequencing Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1
More info about this panel United States.
Craniofacial Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Craniofacial Deletion/Duplication Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1
More info about this panel United States.
GLI3-Related Disorders (GLI3) Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the GLI3 gene.
More info about this panel United States.
GLI3-related Disorders (GLI3) Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the GLI3 gene.
More info about this panel United States.
GLI3-related disorders (GLI3) Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the GLI3 gene.
More info about this panel United States.
Craniosynostosis Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Craniosynostosis that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45
More info about this panel United States.
GLI3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GLI3 gene.
More info about this panel Spain.
GLI3. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GLI3 gene.
More info about this panel Spain.
Craniofacial Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel United States.
Craniofacial Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel United States.
Craniofacial Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel United States.
Pallister-Hall Syndrome (deletion/duplication analysis of GLI3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GLI3 gene.
More info about this panel Portugal.
Pallister-Hall Syndrome (sequence analysis of GLI3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GLI3 gene.
More info about this panel Portugal.
Craniosynostosis (NGS panel for 30 genes) Panel
Portugal.
By CGC Genetics Craniosynostosis (NGS panel for 30 genes) that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 IRX5 TMCO1
More info about this panel Portugal.
Holoprosencephaly (NGS panel for 9 genes) Panel
Portugal.
By CGC Genetics Holoprosencephaly (NGS panel for 9 genes) that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 GLI2 GLI3 PTCH1
More info about this panel Portugal.
Pallister-Hall syndrome (sequence analysis of GLI3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GLI3 gene.
More info about this panel Portugal.
Pallister-Hall syndrome (sequence analysis of GLI3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GLI3 gene.
More info about this panel Portugal.
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 SOX11 TBX18 HNF1B
More info about this panel United States.
Hypospadias Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4
More info about this panel United States.
Congenital Limb Malformation Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15
More info about this panel United States.
GLI3-Related Disorders via GLI3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GLI3 gene.
More info about this panel United States.
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel United States.
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
Craniosynostosis Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Craniosynostosis Deletion / Duplication panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panel United States.
Craniosynostosis Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Craniosynostosis Comprehensive panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panel United States.
Craniosynostosis NGS panel Panel
United States.
By Connective Tissue Gene Tests Craniosynostosis NGS panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panel United States.
Greig cephalopolysyndactyly syndrome NGS Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the GLI3 gene.
More info about this panel United States.
Pallister-Hall syndrome Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the GLI3 gene.
More info about this panel United States.
Greig cephalopolysyndactyly syndrome Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the GLI3 gene.
More info about this panel United States.
Pallister-Hall syndrome NGS Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the GLI3 gene.
More info about this panel United States.
Greig cephalopolysyndactyly syndrome Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the GLI3 gene.
More info about this panel United States.
Polydactyly, preaxial IV & postaxial, type A1 Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the GLI3 gene.
More info about this panel United States.
Polydactyly, preaxial IV & postaxial, type A1 NGS Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the GLI3 gene.
More info about this panel United States.
Polydactyly, preaxial IV & postaxial, type A1 Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the GLI3 gene.
More info about this panel United States.
Pallister-Hall syndrome Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the GLI3 gene.
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Macrocephaly Panel
Germany.
By MGZ Medical Genetics Center Macrocephaly that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panel Germany.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
Greig Cephalopolysyndactyly Syndrome Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the GLI3 gene.
More info about this panel Germany.
Pallister-Hall syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GLI3 gene.
More info about this panel Germany.
Holoprosencephaly panel Panel
Germany.
By Centogene AG - the Rare Disease Company Holoprosencephaly panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 GLI2 GLI3 PTCH1
More info about this panel Germany.
Greig cephalopolysyndactyly syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GLI3 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Single gene testing GLI3 Panel
Germany.
By CeGaT GmbH
This panel specifically test the GLI3 gene.
More info about this panel Germany.
Potentially lethal skeletal disorders Panel Panel
Germany.
By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1
More info about this panel Germany.
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel Panel
Germany.
By CeGaT GmbH Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel that also includes the following genes: ROR2 BMP2 BMPR1B WNT10B WNT7A LMBR1 TP63 TRPV4 BHLHA9 FBLN1
More info about this panel Germany.
qChip Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panel Spain.
qGenEx Craniofacial Anomalies Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3
More info about this panel Spain.
Invitae GLI3-Related Disorders Test Panel
United States.
By Invitae
This panel specifically test the GLI3 gene.
More info about this panel United States.
Invitae Craniosynostosis Panel Panel
United States.
By Invitae Invitae Craniosynostosis Panel that also includes the following genes: TWIST1 RAB23 MEGF8 ERF FGFR1 FGFR2 FGFR3 GLI3 MSX2
More info about this panel United States.
Invitae Overgrowth and Macrocephaly Syndromes Panel Panel
United States.
By Invitae Invitae Overgrowth and Macrocephaly Syndromes Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 SETD2 SPRED1 CUL4B DIS3L2 DNMT3A EZH2
More info about this panel United States.
Pallister-Hall syndrome: GLI3 gene screening (exons 10-14) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GLI3 gene.
More info about this panel Spain.
Greig cephalopolysyndactyly syndrome: GLI3 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GLI3 gene.
More info about this panel Spain.
Pallister-Hall syndrome: GLI3 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GLI3 gene.
More info about this panel Spain.
Craniosysostosis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Craniosysostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1 WDR35 IFT43
More info about this panel Spain.
Disproportionate Short Stature: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11
More info about this panel United States.
Limb Malformation: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb Malformation: Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B FBXW4 SHH SOX9 TBX15 TBX3 TBX5
More info about this panel United States.
Macrocephaly: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Macrocephaly: Sequencing Panel that also includes the following genes: MED12 NSD1 PHF6 UPF3B CUL4B EZH2 GLI3 GPC3 NFIX PTCH1
More info about this panel United States.
Skeletal Dysplasia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panel United States.
Disproportionate Short Stature: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1
More info about this panel United States.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
Skeletal Dysplasias NGS panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panel United States.
GLI3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GLI3 gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
Holoprosencephaly Panel Panel
Finland.
By Blueprint Genetics Holoprosencephaly Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 FGFR1 FOXH1 GLI2 GLI3
More info about this panel Finland.
Macrocephaly / Overgrowth Syndrome Panel Panel
Finland.
By Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panel Finland.
Gastrointestinal Atresia Panel Panel
Finland.
By Blueprint Genetics Gastrointestinal Atresia Panel that also includes the following genes: SOX2 TTC7A CHD7 RFX6 PTF1A CLMP DHCR7 EFTUD2 FANCB FANCC
More info about this panel Finland.
Craniosynostosis Panel Panel
Finland.
By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Ciliopathy Panel Panel
Finland.
By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Pallister-Hall syndrome Panel
Spain.
By Bioarray
This panel specifically test the GLI3 gene.
More info about this panel Spain.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
PALLISTER-HALL SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GLI3 gene.
More info about this panel Spain.
POSTAXIAL POLYDACTYLY TYPES A/B Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GLI3 gene.
More info about this panel Spain.
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GLI3 gene.
More info about this panel Spain.
CRANIOSYNOSTOSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CRANIOSYNOSTOSIS NGS PANEL that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1
More info about this panel Spain.
HOLOPROSENCEPHALY NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL HOLOPROSENCEPHALY NGS PANEL that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DLL1 FGF8 FGFR1 FOXH1 GAS1
More info about this panel Spain.
Providence Personalized Medicine Panel - Solid Tumor Panel
United States.
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panel United States.
Pallister-Hall Syndrome , Sequencing GLI3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GLI3 gene.
More info about this panel Spain.
Postaxial Polidactilia Type A1 and B , Sequencing GLI3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GLI3 gene.
More info about this panel Spain.
Greig Syndrome , Sequencing GLI3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GLI3 gene.
More info about this panel Spain.
Pallister-Hall Syndrome , Sequencing Exons (10-14) GLI3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GLI3 gene.
More info about this panel Spain.
Pallister-Hall Syndrome , Deletions-Duplications (MLPA) GLI3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GLI3 gene.
More info about this panel Spain.
Syndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Syndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: TWIST1 RAB23 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 MSX2 POR
More info about this panel Spain.
Greig cephalopolysyndactyly syndrome Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the GLI3 gene.
More info about this panel Germany.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panel Canada.
Pallister-Hall Syndrome: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GLI3 gene.
More info about this panel Canada.
Greig Cephalopolysyndactyly Syndrome: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GLI3 gene.
More info about this panel Canada.
Greig Cephalopolysyndactyly Syndrome: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GLI3 gene.
More info about this panel Canada.
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