KCNE5 gene related symptoms and diseases

All the information presented here about the KCNE5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KCNE5 gene

Symptoms // Phenotype % Cases
Seizures Uncommon - Between 30% and 50% cases
Proteinuria Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with KCNE5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Depressed nasal bridge
  • Myopia
  • Macrocephaly
  • Downslanted palpebral fissures
  • Anteverted nares
  • Intellectual disability, severe
  • Renal insufficiency
  • Malar flattening

And 50 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KCNE5 gene

Here you will find a list of rare diseases related to the KCNE5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BRUGADA SYNDROME


Alternate names

BRUGADA SYNDROME Is also known as dream disease, idiopathic ventricular fibrillation, brugada type, sudden unexplained nocturnal death syndrome, bangungut, pokkuri death syndrome, sunds

Description

Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities.

Most common symptoms of BRUGADA SYNDROME

  • Seizures
  • Pain
  • Arrhythmia
  • Vertigo
  • Tachycardia


More info about BRUGADA SYNDROME

SOURCES: ORPHANET OMIM

ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME


Alternate names

ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME Is also known as ats-mr, chromosome xq22.3 telomeric deletion syndrome, amme syndrome, alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis, amme complex

Description

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.

Most common symptoms of ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME

  • Intellectual disability
  • Hearing impairment
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


More info about ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for KCNE5 gene

KCNE5 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the KCNE5 gene.

More info about this panel

KCNE5 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the KCNE5 gene.

More info about this panel

Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TNNT2 TRDN CACNA1C

More info about this panel

Brugada Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Brugada Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SCN1B SCN2B SCN5A CACNA1C CACNA2D1 CACNB2 SLMAP HCN4 RANGRF TRPM4

More info about this panel

Familial Atrial Fibrillation Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Familial Atrial Fibrillation Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SCN1B SCN2B SCN5A SCN3B GJA5 ABCC9 KCNA5 KCND3 KCNE1 KCNE5

More info about this panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS

More info about this panel

Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TGFB3 TNNI3 TRDN

More info about this panel

Brugada syndrome and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Brugada syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A SEMA3A CACNA1C CACNA2D1 CACNB2 CAV3 SLMAP

More info about this panel

Brugada syndrome and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Brugada syndrome and related disorders NGS panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A SEMA3A CACNA1C CACNA2D1 CACNB2 CAV3 SLMAP

More info about this panel

Cardiac channelopathy Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cardiac channelopathy Deletion/ Duplication panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SEMA3A SNTA1 TRDN CACNA1C

More info about this panel

Brugada syndrome and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Brugada syndrome and related disorders Comprehensive panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A SEMA3A CACNA1C CACNA2D1 CACNB2 CAV3 SLMAP

More info about this panel

Cardiac channelopathy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cardiac channelopathy Comprehensive panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SEMA3A SNTA1 TRDN CACNA1C

More info about this panel

Cardiac channelopathy NGS panel Panel

United States.

By Connective Tissue Gene Tests Cardiac channelopathy NGS panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SEMA3A SNTA1 TRDN CACNA1C

More info about this panel

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

Long QT Syndrome Extended Panel Panel

Spain.

By Health in Code Long QT Syndrome Extended Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 CACNA1C CALM1 CALM2 CAV3 HCN4

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

J Wave Syndrome Panel Panel

Spain.

By Health in Code J Wave Syndrome Panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A CACNA1C CACNA1D CACNA2D1 CACNB2 SLMAP HCN4

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

Brugada Syndrome Panel Panel

Spain.

By Health in Code Brugada Syndrome Panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A CACNA1C CACNA1D CACNA2D1 CACNB2 SLMAP HCN4

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

Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease Panel

Spain.

By Health in Code Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TNNC1 TNNI3 TNNT2

More info about this panel

Long QT Syndrome Extended Panel Panel

Spain.

By Health in Code Long QT Syndrome Extended Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TRDN CACNA1C CALM1 CALM2 CALM3

More info about this panel

Ventricular arrhythmia and sudden death without structural heart disease Panel

Spain.

By Health in Code Ventricular arrhythmia and sudden death without structural heart disease that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TBX5 TNNC1 TNNI3

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

Brugada syndrome / J wave syndrome Panel

Spain.

By Health in Code Brugada syndrome / J wave syndrome that also includes the following genes: SCN10A SCN1B SCN2B SCN5A CACNA1C CACNA1D CACNA2D1 CACNB2 SLMAP HCN4

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

BRUGADA SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases BRUGADA SYNDROME that also includes the following genes: SCN1B SCN5A CACNA1C CACNA2D1 CACNB2 HCN4 RANGRF TRPM4 SCN3B GPD1L

More info about this panel

LONG QT SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases LONG QT SYNDROME that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TRDN CACNA1C CALM1 CAV3 NOS1AP

More info about this panel

KCNE5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KCNE5 gene.

More info about this panel


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