KLHL40 gene related symptoms and diseases

All the information presented here about the KLHL40 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 KLHL40 gene

Symptoms // Phenotype % Cases
Flexion contracture Very Common - Between 80% and 100% cases
Abnormality of the thorax Very Common - Between 80% and 100% cases
Dysphagia Very Common - Between 80% and 100% cases
Hypokinesia Very Common - Between 80% and 100% cases
Nemaline bodies Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with KLHL40 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Facial palsy
  • Respiratory failure
  • Not very common - Between 30% and 50% cases

  • Multiple prenatal fractures
  • Axial muscle weakness
  • Decreased fetal movement
  • Increased connective tissue
  • Type 1 muscle fiber predominance
  • Breech presentation

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KLHL40 gene

Here you will find a list of rare diseases related to the KLHL40. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NEMALINE MYOPATHY 8; NEM8


Description

Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils (summary by Ravenscroft et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).

Most common symptoms of NEMALINE MYOPATHY 8; NEM8

  • Flexion contracture
  • Dysphagia
  • Myopathy
  • Respiratory failure
  • Facial palsy


More info about NEMALINE MYOPATHY 8; NEM8

SOURCES: OMIM

SEVERE CONGENITAL NEMALINE MYOPATHY


Description

Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.

Most common symptoms of SEVERE CONGENITAL NEMALINE MYOPATHY

  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Dysphagia


More info about SEVERE CONGENITAL NEMALINE MYOPATHY

SOURCES: ORPHANET


Potential gene panels for KLHL40 gene

Congenital Myopathy Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Congenital Myopathy Advanced Sequencing Evaluation that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON TRIM32

More info about this panel

Neuromuscular Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2

More info about this panel

Neuromuscular Disorders Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2

More info about this panel

Congenital Myopathy Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON

More info about this panel

Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis that also includes the following genes: RYR1 SELENON SYNE2 SYNE1 COL6A1 COL6A2 COL6A3 TMEM43 KLHL40 EMD

More info about this panel

Congenital Myopathy with Prominent Contractures Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Myopathy with Prominent Contractures Sequencing Panel that also includes the following genes: RYR1 SELENON SYNE2 SYNE1 COL6A1 COL6A2 COL6A3 TMEM43 KLHL40 EMD

More info about this panel

Congenital Myopathy Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Myopathy Deletion/Duplication Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON

More info about this panel

Nemaline Myopathy Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Nemaline Myopathy Sequencing Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 NEB

More info about this panel

Nemaline Myopathy 8 Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the KLHL40 gene.

More info about this panel

Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel with CNV Detection that also includes the following genes: CHRNA1 CHRND CHRNE CHRNG CNTN1 COLQ DOK7 KLHL40 GLE1 MUSK

More info about this panel

Congenital Myopathy Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 MICU1 SELENON

More info about this panel

Nemaline Myopathy via KLHL40 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KLHL40 gene.

More info about this panel

Nemaline Myopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Nemaline Myopathy Sequencing Panel with CNV Detection that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 NEB

More info about this panel

Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection that also includes the following genes: RIT1 SCN5A SLC17A5 BRAF SOS1 CBL SHOC2 KAT6B CHRNA1 CHRND

More info about this panel

Comprehensive Neuromuscular Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1

More info about this panel

Nemaline Myopathy related to KLHL40 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the KLHL40 gene.

More info about this panel

Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy Panel

Germany.

By MGZ Medical Genetics Center Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 ACTA1 CCDC78 SELENON CFL2 MTMR14

More info about this panel

Newborn: “Floppy Infant “ Panel

Germany.

By MGZ Medical Genetics Center Newborn: “Floppy Infant “ that also includes the following genes: RYR1 BIN1 SCN4A TCAP TNNT1 TPM2 TPM3 TTN UBA1 ACTA1

More info about this panel

Muscle Disease with Contractures and/or Rigid Spine Panel

Germany.

By MGZ Medical Genetics Center Muscle Disease with Contractures and/or Rigid Spine that also includes the following genes: RYR1 TNNT1 TPM2 TPM3 ACTA1 CAPN3 SELENON SYNE2 SYNE1 CFL2

More info about this panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5

More info about this panel

Congenital and Distal Myopathies Panel Panel

Germany.

By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3

More info about this panel

Congenital Myopathy and Distal Myopathy NGS panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Congenital Myopathy and Distal Myopathy NGS panel that also includes the following genes: RYR1 SQSTM1 TIA1 TNNT1 TPM2 TPM3 MYOT TTN VCP ACTA1

More info about this panel

Invitae Comprehensive Neuromuscular Disorders Panel Panel

United States.

By Invitae Invitae Comprehensive Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SMN1 SMN2 SQSTM1

More info about this panel

Invitae Nemaline Myopathy Panel Panel

United States.

By Invitae Invitae Nemaline Myopathy Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 MYPN KLHL40 KBTBD13 LMOD3

More info about this panel

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel

United States.

By Invitae Invitae Cardiomyopathy and Skeletal Muscle Disease Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN5A SGCA SGCB SGCD SGCG SLC22A5 SQSTM1

More info about this panel

Invitae Congenital Myopathy Panel Panel

United States.

By Invitae Invitae Congenital Myopathy Panel that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON KLHL41

More info about this panel

Invitae Comprehensive Myopathy Panel Panel

United States.

By Invitae Invitae Comprehensive Myopathy Panel that also includes the following genes: RYR1 BIN1 SCN4A SQSTM1 STIM1 TIA1 TNNT1 TPM2 TPM3 MYOT

More info about this panel

KLHL40 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KLHL40 gene.

More info about this panel

Comprehensive Muscular Dystrophy / Myopathy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN

More info about this panel

Nemaline Myopathy Panel Panel

Finland.

By Blueprint Genetics Nemaline Myopathy Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 MTM1

More info about this panel

Arthrogryposes Panel Panel

Finland.

By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B

More info about this panel

NEMALINE MYOPATHY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL NEMALINE MYOPATHY NGS PANEL that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 NEB

More info about this panel


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