BIN1 gene related symptoms and diseases

All the information presented here about the BIN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to BIN1 gene

Symptoms // Phenotype % Cases
Facial palsy Very Common - Between 80% and 100% cases
Ophthalmoparesis Very Common - Between 80% and 100% cases
Ophthalmoplegia Very Common - Between 80% and 100% cases
Progressive muscle weakness Very Common - Between 80% and 100% cases
Type 1 muscle fiber predominance Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with BIN1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Proximal muscle weakness
  • Respiratory insufficiency due to muscle weakness
  • Difficulty walking
  • External ophthalmoplegia
  • EMG: myopathic abnormalities
  • Pes cavus
  • Areflexia
  • Generalized muscle weakness

And 83 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to BIN1 gene

Here you will find a list of rare diseases related to the BIN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Alternate names

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive, myotubular myopathy, autosomal recessive, ar-cnm

Description

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

Most common symptoms of AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

SOURCES: ORPHANET OMIM MESH

AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

Alternate names

AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY Is also known as myotubular myopathy, autosomal dominant, ad-cnm, myopathy, centronuclear, autosomal dominant

Description

Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

Most common symptoms of AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Pain


More info about AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

SOURCES: OMIM ORPHANET


Potential gene panels for BIN1 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
United States.

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
United States.

Comprehensive Neuromuscular Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Neuromuscular Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP

More info about this panel
United States.

Congenital Muscular Myopathy Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Congenital Muscular Myopathy that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 ACTA1 SELENON CFL2 CNTN1 DNM2

More info about this panel
United States.

BIN1 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the BIN1 gene.

More info about this panel
United States.

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
United States.

BIN1 deletion/duplication analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the BIN1 gene.

More info about this panel
United States.

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
United States.

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
United States.

Centronuclear Myopathy Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Centronuclear Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 CCDC78 SPEG DNM2 MTM1 MYF6

More info about this panel
United States.

BIN1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the BIN1 gene.

More info about this panel
Spain.

Centronuclear myopathy, AR (sequence analysis of BIN1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the BIN1 gene.

More info about this panel
Portugal.

Congenital myopathy (NGS panel of 19 genes) Panel

Portugal.

By CGC Genetics Congenital myopathy (NGS panel of 19 genes) that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 ACTA1 CCDC78 SELENON CFL2 CNTN1 MAMLD1

More info about this panel
Portugal.

Congenital myopathy (NGS panel of 19 genes) Panel

Portugal.

By CGC Genetics Congenital myopathy (NGS panel of 19 genes) that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 ACTA1 CCDC78 SELENON CFL2 CNTN1 MAMLD1

More info about this panel
Portugal.

Centronuclear Myopathy-2, Autosomal Recessive via BIN1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the BIN1 gene.

More info about this panel
United States.

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
United States.

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
United States.

BIN1 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the BIN1 gene.

More info about this panel
Germany.

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
Germany.

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
Germany.

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
Germany.

Myopathy, centronuclear Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the BIN1 gene.

More info about this panel
Germany.

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
Germany.

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
Germany.

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
United States.

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
United States.

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
United States.

Invitae Centronuclear Myopathy Panel Panel

United States.

By Invitae Invitae Centronuclear Myopathy Panel that also includes the following genes: RYR1 BIN1 TTN CCDC78 DNM2 MTM1

More info about this panel
United States.

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
United States.

Expanded Neuromuscular Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Sequencing Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP

More info about this panel
United States.

Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP

More info about this panel
United States.

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel
United States.

BIN1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BIN1 gene.

More info about this panel
United States.

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
Finland.

Autosomal recessive centronuclear myopathy type 2 Panel

Spain.

By Bioarray

This panel specifically test the BIN1 gene.

More info about this panel
Spain.

CENTRONUCLEAR MYOPATHY, AUTOSOMAL DOMINANT Panel

Spain.

By Laboratorio de Genetica Clinica SL CENTRONUCLEAR MYOPATHY, AUTOSOMAL DOMINANT that also includes the following genes: BIN1 DNM2

More info about this panel
Spain.

CENTRONUCLEAR MYOPATHY AUTOSOMAL RECESSIVE Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the BIN1 gene.

More info about this panel
Spain.

CENTRONUCLEAR MYOPATHY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CENTRONUCLEAR MYOPATHY NGS PANEL that also includes the following genes: RYR1 BIN1 SPEG MAMLD1 MTMR14 DNM2 MTM1 MYF6

More info about this panel
Spain.

Autosomal Recessive Centronuclear Myopathy , Sequencing BIN1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the BIN1 gene.

More info about this panel
Spain.

Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel

Spain.

By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP

More info about this panel
Spain.

Centronuclear Myopathy , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Centronuclear Myopathy , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: RYR1 BIN1 DNM2 MTM1 MYF6

More info about this panel
Spain.

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