GNAQ gene related symptoms and diseases
All the information presented here about the GNAQ gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GNAQ gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Common - Between 50% and 80% cases |
| Glaucoma | Common - Between 50% and 80% cases |
| Seizures | Common - Between 50% and 80% cases |
| Venous thrombosis | Uncommon - Between 30% and 50% cases |
| Hemiparesis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GNAQ gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Cerebral calcification
- Nevus
- Pulmonary embolism
- Nevus flammeus
- Capillary hemangioma
- Intracranial hemorrhage
- Venous insufficiency
- Abnormality of the upper limb
And 87 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GNAQ gene
Here you will find a list of rare diseases related to the GNAQ. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
STURGE-WEBER SYNDROME
Alternate names
STURGE-WEBER SYNDROME Is also known as sws, sturge-weber-dimitri syndrome, sturge-weber-krabbe angiomatosis, encephalofacial angiomatosis, sturge-weber-krabbe syndrome, encephalotrigeminal angiomatosis
Description
Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.
Most common symptoms of STURGE-WEBER SYNDROME
- Intellectual disability
- Seizures
- Strabismus
- Hyperreflexia
- Macrocephaly
More info about STURGE-WEBER SYNDROME
SOURCES: ORPHANET
STURGE-WEBER SYNDROME; SWS
Description
Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by Thomas-Sohl et al., 2004).
Most common symptoms of STURGE-WEBER SYNDROME; SWS
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Cognitive impairment
More info about STURGE-WEBER SYNDROME; SWS
SOURCES: OMIM
FAMILIAL MULTIPLE NEVI FLAMMEI
Alternate names
FAMILIAL MULTIPLE NEVI FLAMMEI Is also known as familial multiple port-wine stains
Description
Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age.
Most common symptoms of FAMILIAL MULTIPLE NEVI FLAMMEI
- Intellectual disability
- Seizures
- Scoliosis
- Edema
- Arrhythmia
More info about FAMILIAL MULTIPLE NEVI FLAMMEI
SOURCES: ORPHANET
CAPILLARY MALFORMATIONS, CONGENITAL; CMC
Alternate names
CAPILLARY MALFORMATIONS, CONGENITAL; CMC Is also known as port-wine stain, nevi flammei, familial multiple, capillary malformations, cmal
Description
Capillary malformations are a form of vascular malformation that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas (OMIM ), which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity (Spring and Bentz, 2005; Legiehn and Heran, 2006).
Most common symptoms of CAPILLARY MALFORMATIONS, CONGENITAL; CMC
- Intellectual disability
- Seizures
- Scoliosis
- Edema
- Dilatation
More info about CAPILLARY MALFORMATIONS, CONGENITAL; CMC
UVEAL MELANOMA
Alternate names
UVEAL MELANOMA Is also known as choroidal melanoma, iris melanoma
Description
Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.
Most common symptoms of UVEAL MELANOMA
- Neoplasm
- Visual loss
- Carcinoma
- Retinal detachment
- Nevus
More info about UVEAL MELANOMA
PHAKOMATOSIS CESIOFLAMMEA
Alternate names
PHAKOMATOSIS CESIOFLAMMEA Is also known as phakomatosis pigmentovascularis type 2
More info about PHAKOMATOSIS CESIOFLAMMEA
SOURCES: ORPHANET
Search interest in GNAQ
Potential gene panels for GNAQ gene
Platelet Disorders Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Platelet Disorders that also includes the following genes: RUNX1 STIM1 TBXA2R TBXAS1 USF1 VPS33B VWF WAS GP6 HPS3
More info about this panel United States.
Uveal Melanoma-Related NGS Gene Panel: GNAQ, GNA11 and BAP1 Panel
United States.
By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Uveal Melanoma-Related NGS Gene Panel: GNAQ, GNA11 and BAP1 that also includes the following genes: GNA11 GNAQ BAP1
More info about this panel United States.
Somatic Overgrowth Gene Panel Panel
United States.
By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Somatic Overgrowth Gene Panel that also includes the following genes: AKT1 AKT2 AKT3 MTOR GNA11 GNAQ PIK3CA PIK3R2
More info about this panel United States.
GNAQ Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the GNAQ gene.
More info about this panel Germany.
Vascular Malformations NGS Multi-Gene Panel (21 Genes) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Vascular Malformations NGS Multi-Gene Panel (21 Genes) that also includes the following genes: BMPR2 SOX18 TEK GLMN CAV1 KRIT1 ACVRL1 DOCK6 ANTXR1 CCM2
More info about this panel Netherlands.
Uveal melanoma and blue nevi (frequent somatic mutations at codon 209 of GNAQ gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GNAQ gene.
More info about this panel Portugal.
Sturge-Weber syndrome (mutation p.Arg183Gln on GNAQ gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GNAQ gene.
More info about this panel Portugal.
Capillary malformations, congenital (mutation p. Arg183GIn on GNAQ gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GNAQ gene.
More info about this panel Portugal.
Capillary malformations, congenital (mutation p. Arg183GIn on GNAQ gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GNAQ gene.
More info about this panel Portugal.
Uveal Melanoma Genetic Prognostic Test Panel
Canada.
By Impact Genetics Impact Genetics Uveal Melanoma Genetic Prognostic Test that also includes the following genes: GNA11 GNAQ
More info about this panel Canada.
Custom solid tumor gene sequencing panel Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom solid tumor gene sequencing panel that also includes the following genes: SF3B1 FOXL2 BRAF TP53 TYRP1 XPC CCND1 CDK4 CDK6 CDKN2A
More info about this panel United States.
Melanoma, somatic mutation sequencing panel Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center Melanoma, somatic mutation sequencing panel that also includes the following genes: BRAF GNA11 GNAQ KIT NRAS
More info about this panel United States.
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.
Cancer Hotspot Panel Panel
Germany.
By Centogene AG - the Rare Disease Company Cancer Hotspot Panel that also includes the following genes: BCL6 ROS1 BRAF BRCA1 BRCA2 SMARCB1 SMO SRC STK11 HNF1A
More info about this panel Germany.
Solid Tumor Panel Panel
Germany.
By Centogene AG - the Rare Disease Company Solid Tumor Panel that also includes the following genes: ROS1 BRAF SMARCA4 SMARCB1 ARID1A SMO STK11 TP53 TSC1 KDM6A
More info about this panel Germany.
Single gene testing GNAQ Panel
Germany.
By CeGaT GmbH
This panel specifically test the GNAQ gene.
More info about this panel Germany.
Sturge-Weber syndrome, somatic, mosaic: GNAQ gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GNAQ gene.
More info about this panel Spain.
Melanoma: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Melanoma: Sequencing Panel that also includes the following genes: BRAF WRN CDK4 CDKN2A GNAQ KIT KRAS MAP2K1 NRAS PIK3CA
More info about this panel United States.
Focus::Oncomine™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Oncomine™ NGS Panel that also includes the following genes: ROS1 BRAF SMO CDK4 CTNNB1 DDR2 EGFR ERBB2 ERBB3 ERBB4
More info about this panel United States.
Somatic Overgrowth Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Somatic Overgrowth Gene Set that also includes the following genes: SMO TSC1 TSC2 AKT1 AKT2 AKT3 MTOR GNA11 GNAQ IDH1
More info about this panel United States.
Nevus Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Nevus Gene Set that also includes the following genes: FGFR3 GNA11 GNAQ HRAS KRAS NRAS PIK3CA
More info about this panel United States.
Melanoma Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Melanoma Gene Set that also includes the following genes: ROS1 BRAF TERT MED12 TP53 KMT2C CCND1 CDK4 CDKN2A CTNNB1
More info about this panel United States.
FoundationOne® Heme Panel
United States.
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panel United States.
Guardant360 Panel
United States.
By Guardant Health Guardant360 that also includes the following genes: RHEB RIT1 ROS1 BRAF BRCA1 BRCA2 ARID1A SMO STK11 HNF1A
More info about this panel United States.
Comprehensive Panel for Individualized Cancer Threatment Panel
Greece.
By GeneKor MSA Comprehensive Panel for Individualized Cancer Threatment that also includes the following genes: ROS1 BRAF SMARCB1 SMO SRC HNF1A TP53 VHL FBXW7 CDH1
More info about this panel Greece.
Cancer Hotspot Analysis Panel
United States.
By Advanced Technology Laboratory Spectrum Health Cancer Hotspot Analysis that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1
More info about this panel United States.
Circulo Melanoma Panel
United States.
By Circulogene Theranostics
This panel specifically test the GNAQ gene.
More info about this panel United States.
NeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
OmniSeq Comprehensive Panel
United States.
By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1
More info about this panel United States.
STURGE-WEBER SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GNAQ gene.
More info about this panel Spain.
Solid Tumor Targeted Mutation and Fusion Panel Panel
United States.
By Providence Regional Laboratories Providence Health and Services Solid Tumor Targeted Mutation and Fusion Panel that also includes the following genes: ROS1 BRAF SMO CCND1 CDK4 CDK6 CTNNB1 DDR2 EGFR ERBB2
More info about this panel United States.
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.
Sturge-Weber Syndrome , Sequencing GNAQ Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GNAQ gene.
More info about this panel Spain.
152 Integrated Advantage NGS Solid Tumor Panel Panel
United States.
By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC
More info about this panel United States.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
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 targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1
More info about this panel Canada.
PrimBio Cancer HotSpot Panel Panel
United States.
By PrimBio Research Institute PrimBio Research Institute PrimBio Cancer HotSpot Panel that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1
More info about this panel United States.
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