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.

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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

SOURCES: OMIM ORPHANET

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

SOURCES: ORPHANET OMIM

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

SOURCES: ORPHANET OMIM

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). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

Most common symptoms of ERYTHROKERATODERMIA VARIABILIS

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Cataract


More info about ERYTHROKERATODERMIA VARIABILIS

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM MESH

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

SOURCES: MESH ORPHANET OMIM

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

SOURCES: OMIM ORPHANET

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). Genetic Heterogeneity of Hypoplastic Left Heart SyndromeHypoplastic left heart syndrome-2 (HLHS2 ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q35.1.Somatic mutations in the HAND1 gene (OMIM ) have been identified in tissue samples from patients with HLHS.

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


Potential gene panels for GJA1 gene

Oculodentodigital Dysplasia Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital

This panel specifically test the GJA1 gene.

More info about this panel

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

Heterotaxy V2 Panel Panel

United States.

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 panel

GJA1 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the GJA1 gene.

More info about this panel

Ataxia Exome Panel Panel

United States.

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 panel

GJA1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the GJA1 gene.

More info about this panel

Lymphedema NGS Multi-Gene Panel (36 Genes) Panel

Netherlands.

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 panel

GJA1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the GJA1 gene.

More info about this panel

Syndactyly type 3 (sequence analysis of GJA1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GJA1 gene.

More info about this panel

Hypoplastic left heart syndrome (sequence analysis of GJA1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GJA1 gene.

More info about this panel

Atrioventricular septal defect 3 (sequence analysis of GJA1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GJA1 gene.

More info about this panel

Craniometaphyseal dysplasia (sequence analysis of GJA1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GJA1 gene.

More info about this panel

Oculodentodigital dysplasia (sequence analysis of GJA1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GJA1 gene.

More info about this panel

OCULODENTODIGITAL DYSPLASIA Panel

Belgium.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique

This panel specifically test the GJA1 gene.

More info about this panel

OculoDentoDigital Dysplasia (ODDD) via GJA1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GJA1 gene.

More info about this panel

Lymphedema Sequencing Panel with CNV Detection Panel

United States.

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 panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

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 panel

Dense bone dysplasia NGS panel Panel

United States.

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 panel

Ichthyosis Deletion / Duplication panel Panel

United States.

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 panel

Ichthyosis NGS panel Panel

United States.

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 panel

Dense bone dysplasia Comprehensive panel Panel

United States.

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 panel

Dense bone dysplasia Deletion / Duplication panel Panel

United States.

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 panel

Ichthyosis Comprehensive panel Panel

United States.

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 panel

Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel Panel

United States.

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 panel

Osteopetrosis and Dense bone dysplasia NGS panel Panel

United States.

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 panel

Osteopetrosis and Dense bone dysplasia Comprehensive panel Panel

United States.

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 panel

Erythrokeratodermias and related disorders Comprehensive panel Panel

United States.

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 panel

Erythrokeratodermias and related disorders NGS panel Panel

United States.

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 panel

Erythrokeratodermias and related disorders Deletion / Duplication panel Panel

United States.

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 panel

Heart Diseases - panels Panel

Germany.

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 panel

Eye Diseases - panels Panel

Germany.

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 panel

Neurogenetic Disorders - panels Panel

Germany.

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 panel

Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel

Germany.

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 panel

Congenital heart defects panel Panel

Netherlands.

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 panel

Heterotaxy panel Panel

Germany.

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 panel

Oculodentodigital dysplasia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GJA1 gene.

More info about this panel

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

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 panel

Congenital Heart Defects Panel Panel

Germany.

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 panel

Single gene testing GJA1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the GJA1 gene.

More info about this panel

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

Skeletal dysplasia with increased bone density Panel Panel

Germany.

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 panel

Cardio-channelopathy-gene-panel Panel

Germany.

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 panel

Cataract Panel

Estonia.

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 panel

Eye diseases comprehensive panel Panel

Estonia.

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 panel

Auricular Fibrillation Panel Panel

Spain.

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 panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Spain.

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 panel

Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel

Spain.

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 panel

Cardiomyopathies Panel Panel

Spain.

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 panel

Congenital Heart Diseases Panel Panel

Spain.

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 panel

Cardiovascular Diseases_General Panel Panel

Spain.

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 panel

Atrial fibrillation Panel Panel

Spain.

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 panel

Arrhythmia General Panel Panel

Spain.

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 panel

Congenital heart diseases Panel Panel

Spain.

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 panel

Primary lymphedema and Hydrops fetalis Panel

Belgium.

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 panel

Oculodentodigital dysplasia Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GJA1 gene.

More info about this panel

Syndactyly, type III Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GJA1 gene.

More info about this panel

Hypoplastic left heart syndrome 1 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GJA1 gene.

More info about this panel

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

Hallermann-Streiff syndrome Panel

Slovakia.

By MedGene

This panel specifically test the GJA1 gene.

More info about this panel

Hypoplastic left heart syndrome 1 Panel

Slovakia.

By MedGene

This panel specifically test the GJA1 gene.

More info about this panel

Oculodentodigital dysplasia Panel

Slovakia.

By MedGene

This panel specifically test the GJA1 gene.

More info about this panel

Syndactyly, type III Panel

Slovakia.

By MedGene

This panel specifically test the GJA1 gene.

More info about this panel

Invitae Congenital Heart Defects and Heterotaxy Panel Panel

United States.

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 panel

Invitae Congenital Heart Disease Panel Panel

United States.

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 panel

Hearing Loss NGS Panel Panel

United States.

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 panel

GJA1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GJA1 gene.

More info about this panel

Ichthyosis Panel Panel

Finland.

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 panel

Comprehensive Hearing Loss and Deafness Panel Panel

Finland.

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 panel

Osteopetrosis and Dense Bone Dysplasia Panel Panel

Finland.

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 panel

Syndromic Hearing Loss Panel Panel

Finland.

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 panel

Congenital Structural Heart Disease Panel Panel

Finland.

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 panel

Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel

Finland.

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 panel

Cataract Panel Panel

Finland.

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 panel

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

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

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Hypoplastic left heart syndrome Panel

Spain.

By Bioarray

This panel specifically test the GJA1 gene.

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Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel

United States.

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

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HYPOPLASTIC LEFT HEART SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GJA1 gene.

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HALLERMANN-STREIFF SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GJA1 gene.

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OCULODENTODIGITAL DYSPLASIA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GJA1 gene.

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SYNDACTYLY TYPE 3 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GJA1 gene.

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Craniometaphyseal Dysplasia , Sequencing GJA1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GJA1 gene.

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Hypoplastic Left Heart Syndrome , Sequencing GJA1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GJA1 gene.

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Craniometaphyseal Dysplasia, Panel Massive Sequencing (NGS) ANKH, GJA1 Genes Panel

Spain.

By Reference Laboratory Genetics Craniometaphyseal Dysplasia, Panel Massive Sequencing (NGS) ANKH, GJA1 Genes that also includes the following genes: ANKH GJA1

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Erythrokeratodermia Variabilis et Progressiva , Panel Massive Sequencing (NGS) GJB4, GJB3, GJA1, LOR Genes Panel

Spain.

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

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Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes Panel

Spain.

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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