GJA1 gene related symptoms and diseases
All the information presented here about the GJA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GJA1 gene
Symptoms // Phenotype | % Cases |
---|---|
Palmoplantar keratoderma | Uncommon - Between 30% and 50% cases |
Cataract | Uncommon - Between 30% and 50% cases |
Hyperkeratosis | Rare - less than 30% cases |
Hypertelorism | Rare - less than 30% cases |
Hyperostosis | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with GJA1 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Abnormality of the dentition
- Syndactyly
- 4-5 finger syndactyly
- Erythema
- Abnormality of cardiovascular system morphology
- Hearing impairment
- Clinodactyly
- Intellectual disability
And 264 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GJA1 gene
Here you will find a list of rare diseases related to the GJA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3
Description
Erythrokeratodermia variabilis et progressiva is a rare skin disease. Patients with EKVP3 have normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema (summary by Boyden et al., 2015).For a discussion of genetic heterogeneity of EKVP, see EKVP1 (OMIM ).
Most common symptoms of ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3
- Hyperkeratosis
- Erythema
- Palmoplantar keratoderma
- Epidermal acanthosis
- Hypergranulosis
More info about ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3
SOURCES: OMIM
OCULODENTODIGITAL DYSPLASIA
Alternate names
OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome, odd syndrome, oculodentoosseous dysplasia, odod, oddd syndrome
Description
Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.
Most common symptoms of OCULODENTODIGITAL DYSPLASIA
- Intellectual disability
- Seizures
- Hearing impairment
- Microcephaly
- Ataxia
More info about OCULODENTODIGITAL DYSPLASIA
AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA
Alternate names
AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA Is also known as ppkca, stevanovic type, keratoderma-hypotrichosis-leukonychia totalis syndrome, palmoplantar keratoderma and congenital alopecia, stevanovic type, autosomal dominant palmoplantar hyperkeratosis and congenital alopecia, ppk-ca, stevanovic type
Description
Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.
Most common symptoms of AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA
- Scoliosis
- Cataract
- Flexion contracture
- Alopecia
- Hyperhidrosis
More info about AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA
CRANIOMETAPHYSEAL DYSPLASIA
Description
Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.
Most common symptoms of CRANIOMETAPHYSEAL DYSPLASIA
- Intellectual disability
- Hearing impairment
- Hypertelorism
- Sensorineural hearing impairment
- Abnormal facial shape
More info about CRANIOMETAPHYSEAL DYSPLASIA
ERYTHROKERATODERMIA VARIABILIS
Alternate names
ERYTHROKERATODERMIA VARIABILIS Is also known as psek, erythrokeratodermia variabilis et progressiva, ekvp, ekv, erythrokeratodermia variabilis, mendes da costa type, erythrokeratodermia figurata, congenital familial, in plaques, erythrokeratodermia, progressive symmetric, erythrokeratodermia variabilis with e
Description
The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991).
Most common symptoms of ERYTHROKERATODERMIA VARIABILIS
- Intellectual disability
- Short stature
- Hearing impairment
- Microcephaly
- Cataract
More info about ERYTHROKERATODERMIA VARIABILIS
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
Alternate names
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive, oculodentoosseous dysplasia, autosomal recessive, oddd, autosomal recessive
Most common symptoms of OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
- Global developmental delay
- Short stature
- Failure to thrive
- Micrognathia
- Cataract
More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3
Most common symptoms of ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3
- Hypertension
- Congestive heart failure
- Cyanosis
- Pulmonary arterial hypertension
- First degree atrioventricular block
More info about ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3
SOURCES: OMIM
SYNDACTYLY TYPE 3
Alternate names
SYNDACTYLY TYPE 3 Is also known as ring and little finger syndactyly, sdty3, syndactyly of fingers 4 and 5, syndactyly of fingers iv and v, sd3
Description
Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.
Most common symptoms of SYNDACTYLY TYPE 3
- Hypertelorism
- Abnormality of the dentition
- Syndactyly
- Clinodactyly
- Camptodactyly of finger
More info about SYNDACTYLY TYPE 3
HYPOPLASTIC LEFT HEART SYNDROME
Alternate names
HYPOPLASTIC LEFT HEART SYNDROME Is also known as hlhs
Description
Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.
Most common symptoms of HYPOPLASTIC LEFT HEART SYNDROME
- Ventricular septal defect
- Atrial septal defect
- Patent ductus arteriosus
- Hypoplastic left heart
- Maternal diabetes
More info about HYPOPLASTIC LEFT HEART SYNDROME
HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1
Alternate names
HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1 Is also known as hlhs
Description
Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ductus arteriosus and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged (Brekke, 1953).
Most common symptoms of HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1
- Abnormality of cardiovascular system morphology
- Patent ductus arteriosus
- Abnormal heart morphology
- Coarctation of aorta
- Aortic valve stenosis
More info about HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1
SOURCES: OMIM
AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB
Alternate names
AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB Is also known as autosomal recessive isolated sensorineural deafness type dfnb, autosomal recessive isolated neurosensory deafness type dfnb, autosomal recessive non-syndromic neurosensory deafness type dfnb
More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB
SOURCES: ORPHANET
Search interest in GJA1
Potential gene panels for GJA1 gene
Oculodentodigital Dysplasia Panel
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
This panel specifically test the GJA1 gene.
More info about this panelAnophthalmia/microphthalmia Panel
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 panelHeterotaxy V2 Panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Heterotaxy V2 Panel that also includes the following genes: ZIC3 CRELD1 ACVR2B CFC1 BCL9L NKX2-5 CFAP53 DNAH11 DNAH5 NAT10
More info about this panelGJA1 sequencing Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the GJA1 gene.
More info about this panelAtaxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panelGJA1 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the GJA1 gene.
More info about this panelLymphedema NGS Multi-Gene Panel (36 Genes) Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Lymphedema NGS Multi-Gene Panel (36 Genes) that also includes the following genes: BRAF SOS1 SOX18 VEGFC CBL SHOC2 GJC2 TUBGCP6 CDK19 SPRED1
More info about this panelGJA1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GJA1 gene.
More info about this panelSyndactyly type 3 (sequence analysis of GJA1 gene) Panel
By CGC Genetics
This panel specifically test the GJA1 gene.
More info about this panelHypoplastic left heart syndrome (sequence analysis of GJA1 gene) Panel
By CGC Genetics
This panel specifically test the GJA1 gene.
More info about this panelAtrioventricular septal defect 3 (sequence analysis of GJA1 gene) Panel
By CGC Genetics
This panel specifically test the GJA1 gene.
More info about this panelCraniometaphyseal dysplasia (sequence analysis of GJA1 gene) Panel
By CGC Genetics
This panel specifically test the GJA1 gene.
More info about this panelOculodentodigital dysplasia (sequence analysis of GJA1 gene) Panel
By CGC Genetics
This panel specifically test the GJA1 gene.
More info about this panelOCULODENTODIGITAL DYSPLASIA Panel
By Centre de Genetique Humaine Institut de Pathologie et de Genetique
This panel specifically test the GJA1 gene.
More info about this panelOculoDentoDigital Dysplasia (ODDD) via GJA1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the GJA1 gene.
More info about this panelLymphedema Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Lymphedema Sequencing Panel with CNV Detection that also includes the following genes: SOX18 VEGFC GJC2 FAT4 PIEZO1 CCBE1 FLT4 FOXC2 GATA2 GJA1
More info about this panelLeukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
More info about this panelDense bone dysplasia NGS panel Panel
By Connective Tissue Gene Tests Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD
More info about this panelIchthyosis Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Ichthyosis Deletion / Duplication panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN
More info about this panelIchthyosis NGS panel Panel
By Connective Tissue Gene Tests Ichthyosis NGS panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN
More info about this panelDense bone dysplasia Comprehensive panel Panel
By Connective Tissue Gene Tests Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD
More info about this panelDense bone dysplasia Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD
More info about this panelIchthyosis Comprehensive panel Panel
By Connective Tissue Gene Tests Ichthyosis Comprehensive panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN
More info about this panelOsteopetrosis and Dense bone dysplasia Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panelOsteopetrosis and Dense bone dysplasia NGS panel Panel
By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panelOsteopetrosis and Dense bone dysplasia Comprehensive panel Panel
By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panelErythrokeratodermias and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Erythrokeratodermias and related disorders Comprehensive panel that also includes the following genes: DSP KDSR GJA1 GJB4 KRT83 LOR
More info about this panelErythrokeratodermias and related disorders NGS panel Panel
By Connective Tissue Gene Tests Erythrokeratodermias and related disorders NGS panel that also includes the following genes: DSP KDSR GJA1 GJB4 KRT83 LOR
More info about this panelErythrokeratodermias and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Erythrokeratodermias and related disorders Deletion / Duplication panel that also includes the following genes: DSP KDSR GJA1 GJB4 KRT83 LOR
More info about this panelHeart Diseases - panels Panel
By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB
More info about this panelEye Diseases - panels Panel
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
More info about this panelNeurogenetic Disorders - panels Panel
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panelMicrophthalmia-Anophthalmia-Coloboma Complex (MAC) Panel
By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1
More info about this panelCongenital heart defects panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Congenital heart defects panel that also includes the following genes: BRAF SOS1 TAZ TBX20 TBX5 ZIC3 ACTC1 CRELD1 CBL SHOC2
More info about this panelHeterotaxy panel Panel
By Centogene AG - the Rare Disease Company Heterotaxy panel that also includes the following genes: ZIC3 CRELD1 ACVR2B CFC1 NKX2-5 LEFTY2 FOXH1 GDF1 GJA1 NODAL
More info about this panelOculodentodigital dysplasia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GJA1 gene.
More info about this panelEctodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel
By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6
More info about this panelCongenital Heart Defects Panel Panel
By CeGaT GmbH Congenital Heart Defects Panel that also includes the following genes: SEMA3E TBX1 TBX20 TBX3 TBX5 TFAP2B TLL1 ZIC3 ACTC1 CRELD1
More info about this panelSingle gene testing GJA1 Panel
By CeGaT GmbH
This panel specifically test the GJA1 gene.
More info about this panelIsolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel Panel
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 panelSkeletal dysplasia with increased bone density Panel Panel
By CeGaT GmbH Skeletal dysplasia with increased bone density Panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 CA2 SOST SNX10
More info about this panelCardio-channelopathy-gene-panel Panel
By MVZ Dortmund Dr. Eberhard & Partner Cardio-channelopathy-gene-panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TRDN CACNA1C CACNB2 CALM1
More info about this panelCataract Panel
By Asper Biogene Asper Biogene LLC Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM UNC45B FYCO1 PXDN CHMP4B P3H2 VSX2
More info about this panelEye diseases comprehensive panel Panel
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelAuricular Fibrillation Panel Panel
By Health in Code Auricular Fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A TBX5 TNNI3 TNNT2 TPM1
More info about this panelInherited Cardiovascular Diseases and Sudden Death Panel Panel
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panelVentricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel
By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4
More info about this panelCardiomyopathies Panel Panel
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panelCongenital Heart Diseases Panel Panel
By Health in Code Congenital Heart Diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TNNI3 TTN ACTA2 ACTC1 CRELD1
More info about this panelCardiovascular Diseases_General Panel Panel
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panelAtrial fibrillation Panel Panel
By Health in Code Atrial fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A TBX5 TNNI3 TNNT2 TPM1
More info about this panelArrhythmia General Panel Panel
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panelCongenital heart diseases Panel Panel
By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2
More info about this panelPrimary lymphedema and Hydrops fetalis Panel
By Center for Human Genetics Cliniques Universitaires Saint Luc Primary lymphedema and Hydrops fetalis that also includes the following genes: SOS1 SOX18 VEGFC GJC2 FAT4 PIEZO1 CCBE1 EPHB4 FLT4 FOXC2
More info about this panelOculodentodigital dysplasia Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the GJA1 gene.
More info about this panelSyndactyly, type III Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the GJA1 gene.
More info about this panelHypoplastic left heart syndrome 1 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the GJA1 gene.
More info about this panelqGenEx Craniofacial Anomalies Panel
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 panelHallermann-Streiff syndrome Panel
By MedGene
This panel specifically test the GJA1 gene.
More info about this panelHypoplastic left heart syndrome 1 Panel
By MedGene
This panel specifically test the GJA1 gene.
More info about this panelOculodentodigital dysplasia Panel
By MedGene
This panel specifically test the GJA1 gene.
More info about this panelSyndactyly, type III Panel
By MedGene
This panel specifically test the GJA1 gene.
More info about this panelInvitae Congenital Heart Defects and Heterotaxy Panel Panel
By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298
More info about this panelInvitae Congenital Heart Disease Panel Panel
By Invitae Invitae Congenital Heart Disease Panel that also includes the following genes: RIT1 BRAF SOS1 TBX1 TBX5 ZIC3 NSD1 ACTC1 CRELD1 CBL
More info about this panelHearing Loss NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2
More info about this panelGJA1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GJA1 gene.
More info about this panelIchthyosis Panel Panel
By Blueprint Genetics Ichthyosis Panel that also includes the following genes: SLC27A4 STS TGM1 ALOXE3 ABCA12 MBTPS2 SPINK5 MPLKIP CDSN SUMF1
More info about this panelComprehensive Hearing Loss and Deafness Panel Panel
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panelOsteopetrosis and Dense Bone Dysplasia Panel Panel
By Blueprint Genetics Osteopetrosis and Dense Bone Dysplasia Panel that also includes the following genes: SLCO2A1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST SNX10
More info about this panelSyndromic Hearing Loss Panel Panel
By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK
More info about this panelCongenital Structural Heart Disease Panel Panel
By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB
More info about this panelMicrophthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel
By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN
More info about this panelCataract Panel Panel
By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1
More info about this panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
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 panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
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 panelHypoplastic left heart syndrome Panel
By Bioarray
This panel specifically test the GJA1 gene.
More info about this panelOtogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
More info about this panelHYPOPLASTIC LEFT HEART SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the GJA1 gene.
More info about this panelHALLERMANN-STREIFF SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the GJA1 gene.
More info about this panelOCULODENTODIGITAL DYSPLASIA Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the GJA1 gene.
More info about this panelSYNDACTYLY TYPE 3 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the GJA1 gene.
More info about this panelCraniometaphyseal Dysplasia , Sequencing GJA1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the GJA1 gene.
More info about this panelHypoplastic Left Heart Syndrome , Sequencing GJA1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the GJA1 gene.
More info about this panelCraniometaphyseal Dysplasia, Panel Massive Sequencing (NGS) ANKH, GJA1 Genes Panel
By Reference Laboratory Genetics Craniometaphyseal Dysplasia, Panel Massive Sequencing (NGS) ANKH, GJA1 Genes that also includes the following genes: ANKH GJA1
More info about this panelErythrokeratodermia Variabilis et Progressiva , Panel Massive Sequencing (NGS) GJB4, GJB3, GJA1, LOR Genes Panel
By Reference Laboratory Genetics Erythrokeratodermia Variabilis et Progressiva , Panel Massive Sequencing (NGS) GJB4, GJB3, GJA1, LOR Genes that also includes the following genes: GJA1 GJB4 LOR
More info about this panelCardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes Panel
By Reference Laboratory Genetics Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC25A3 SLC6A4 SNTA1 TAZ
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