STAC3 gene related symptoms and diseases

All the information presented here about the STAC3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to STAC3 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Long face Very Common - Between 80% and 100% cases
Hyporeflexia Very Common - Between 80% and 100% cases
Brachycephaly Very Common - Between 80% and 100% cases
Kyphoscoliosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with STAC3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Conductive hearing impairment
  • Proximal muscle weakness
  • Telecanthus
  • Facial palsy
  • Blepharophimosis
  • Arthrogryposis multiplex congenita
  • Abnormality of the foot
  • Talipes

And 42 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to STAC3 gene

Here you will find a list of rare diseases related to the STAC3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NATIVE AMERICAN MYOPATHY


Alternate names

NATIVE AMERICAN MYOPATHY Is also known as nam, myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia, native american myopathy, congenital myopathy-cleft palate-malignant hyperthermia syndrome

Description

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

Most common symptoms of NATIVE AMERICAN MYOPATHY

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


More info about NATIVE AMERICAN MYOPATHY

SOURCES: OMIM MESH ORPHANET


Potential gene panels for STAC3 gene

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 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

Congenital Myopathy (Native American Myopathy) via STAC3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the STAC3 gene.

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

Malignant Hyperthermia Susceptibility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Malignant Hyperthermia Susceptibility Sequencing Panel with CNV Detection that also includes the following genes: RYR1 CACNA1S STAC3

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

Muscle Disease with CNS Involvement Panel

Germany.

By MGZ Medical Genetics Center Muscle Disease with CNS Involvement that also includes the following genes: SNAP25 TTN RXYLT1 CCDC78 MICU1 B4GAT1 SYNE1 FKRP POMGNT1 CHKB

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

Native American myopathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the STAC3 gene.

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 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

STAC3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the STAC3 gene.

More info about this panel


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