RAPSN gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to RAPSN gene

Symptoms // Phenotype % Cases
Ptosis Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Fatigable weakness Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

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

  • Muscle weakness
  • Low-set ears
  • Flexion contracture
  • Skeletal muscle atrophy
  • Arthrogryposis multiplex congenita
  • Decreased fetal movement
  • Easy fatigability
  • Not very common - Between 30% and 50% cases

  • Generalized hypotonia

And 144 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to RAPSN gene

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


MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11


Alternate names

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly, myasthenic syndrome, congenital, ie, formerly, cms ie, formerly

Description

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Most common symptoms of MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

SOURCES: MESH OMIM

MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C


Alternate names

MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C Is also known as cms id, formerly, myasthenia, familial infantile, 1, formerly, myasthenic syndrome, congenital, type id, cms1d, formerly, fim1, formerly

Description

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG (OMIM ) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Most common symptoms of MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C

  • Generalized hypotonia
  • Strabismus
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


More info about MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C

SOURCES: OMIM

LETHAL MULTIPLE PTERYGIUM SYNDROME


Alternate names

LETHAL MULTIPLE PTERYGIUM SYNDROME Is also known as lmps, pterygium syndrome, multiple, lethal type, autosomal recessive lethal multiple pterygium syndrome

Description

Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.

Most common symptoms of LETHAL MULTIPLE PTERYGIUM SYNDROME

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


More info about LETHAL MULTIPLE PTERYGIUM SYNDROME

SOURCES: OMIM ORPHANET

FETAL AKINESIA DEFORMATION SEQUENCE


Alternate names

FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome, arthrogryposis multiplex congenita with pulmonary hypoplasia, fads, pena-shokeir syndrome type 1, fetal akinesia sequence, pena-shokeir syndrome, type i

Description

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

Most common symptoms of FETAL AKINESIA DEFORMATION SEQUENCE

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


More info about FETAL AKINESIA DEFORMATION SEQUENCE

SOURCES: OMIM ORPHANET

POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Most common symptoms of POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

  • Scoliosis
  • Muscle weakness
  • Ptosis
  • High palate
  • Skeletal muscle atrophy


More info about POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

SOURCES: ORPHANET


Potential gene panels for RAPSN gene

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Complete Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

Congenital Myasthenic Syndrome Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Congenital Myasthenic Syndrome Advanced Sequencing Evaluation that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 DPAGT1 AGRN

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

Congenital Contractures Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6

More info about this panel

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

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 Myasthenic Syndrome Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Myasthenic Syndrome Sequencing Panel that also includes the following genes: SCN4A SNAP25 SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ

More info about this panel

Congenital Myasthenic Syndrome Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Myasthenic Syndrome Deletion/Duplication Panel that also includes the following genes: SCN4A SNAP25 SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ

More info about this panel

RAPSN. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the RAPSN gene.

More info about this panel

CHRNA1, CHAT, CHRNE, RAPSN, DOK7, COLQ. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica CHRNA1, CHAT, CHRNE, RAPSN, DOK7, COLQ. NextGeneDx.Complete sequencing by NGS that also includes the following genes: CHAT CHRNA1 CHRNE COLQ DOK7 RAPSN

More info about this panel

Myasthenic syndrome, congenital (NGS panel for 17genes) Panel

Portugal.

By CGC Genetics Myasthenic syndrome, congenital (NGS panel for 17genes) that also includes the following genes: SCN4A SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ DOK7

More info about this panel

Myasthenic syndrome, congenital (sequence analysis of RAPSN gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RAPSN gene.

More info about this panel

Myasthenic syndrome fast channel congenital (NGS panel for 8 genes) Panel

Portugal.

By CGC Genetics Myasthenic syndrome fast channel congenital (NGS panel for 8 genes) that also includes the following genes: CHRNA1 CHRNB1 CHRND CHRNE CHRNG AGRN MUSK RAPSN

More info about this panel

RAPSN-Related Congenital Myasthenic Syndrome Panel

Belgium.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique

This panel specifically test the RAPSN gene.

More info about this panel

Rapsyn-Related Disorders via RAPSN Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the RAPSN 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 Myasthenic Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Myasthenic Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SCN4A SNAP25 STIM1 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7

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

Congenital contracture syndrome extended NGS panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended NGS panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Congenital contracture syndrome extended Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended Comprehensive panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Congenital contracture syndrome extended Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended Deletion / Duplication panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Lethal congenital contracture syndrome and related disorders Comprehensive Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Comprehensive Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

Lethal congenital contracture syndrome and related disorders NGS Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders NGS Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

Fetal akinesia deformation sequence / congenital myasthenia Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Fetal akinesia deformation sequence / congenital myasthenia that also includes the following genes: CHRNA1 CHRND CHRNE CHRNG COLQ DOK7 MUSK RAPSN

More info about this panel

RAPSN-Related Congenital Myasthenic Syndrome Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the RAPSN gene.

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

Congenital Myasthenic Syndrome (CMS) Panel

Germany.

By MGZ Medical Genetics Center Congenital Myasthenic Syndrome (CMS) that also includes the following genes: SNAP25 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 ALG14

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 Disease with Ptosis / External Ophthalmoplegia Panel

Germany.

By MGZ Medical Genetics Center Muscle Disease with Ptosis / External Ophthalmoplegia that also includes the following genes: RYR1 SLC25A4 TWNK RRM2B CHAT KIF21A CHRNA1 CHRNB1 CHRND CHRNE

More info about this panel

Newborn: Neonatal Apneas Panel

Germany.

By MGZ Medical Genetics Center Newborn: Neonatal Apneas that also includes the following genes: SCN4A SLC6A5 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ LAS1L GLRA1

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

Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1

More info about this panel

Congenital Myasthenic Syndrome Panel Panel

United States.

By FirmaLab Congenital Myasthenic Syndrome Panel that also includes the following genes: CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 MUSK RAPSN

More info about this panel

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the RAPSN gene.

More info about this panel

Fetal akinesia deformation sequence Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the RAPSN gene.

More info about this panel

Congenital myasthenic syndrome panel Panel

Germany.

By Centogene AG - the Rare Disease Company Congenital myasthenic syndrome panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ DOK7 AGRN

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

Fetal akinesia deformation sequence Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum Fetal akinesia deformation sequence that also includes the following genes: DOK7 RAPSN

More info about this panel

Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel

Germany.

By CeGaT GmbH Congenital Myasthenic Syndromes and Arthrogryposis Panel that also includes the following genes: SCN4A SNAP25 SYT2 TNNI2 TNNT3 TPM2 ADGRG6 SYNE1 FKBP10 NALCN

More info about this panel

Single gene testing RAPSN Panel

Germany.

By CeGaT GmbH

This panel specifically test the RAPSN gene.

More info about this panel

Fetal akinesia deformation sequence Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the RAPSN gene.

More info about this panel

Myasthenic syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the RAPSN gene.

More info about this panel

Fetal akinesia deformation sequence Panel

Slovakia.

By MedGene

This panel specifically test the RAPSN gene.

More info about this panel

Myasthenic syndrome Panel

Slovakia.

By MedGene

This panel specifically test the RAPSN gene.

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 Congenital Myasthenic Syndrome Panel Panel

United States.

By Invitae Invitae Congenital Myasthenic Syndrome Panel that also includes the following genes: CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 DPAGT1 AGRN

More info about this panel

Pena-Shokeir syndrome type 1: RAPSN gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the RAPSN gene.

More info about this panel

Myasthenic, Congenital: CHRNA1 (G153S), CHAT (I305T), RAPSN (N88K) and CHRNE (1267delG, 1293insG) genes mutations analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Myasthenic, Congenital: CHRNA1 (G153S), CHAT (I305T), RAPSN (N88K) and CHRNE (1267delG, 1293insG) genes mutations analysis that also includes the following genes: CHAT CHRNA1 CHRNE RAPSN

More info about this panel

Myasthenic, Congenital: RAPSN gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the RAPSN gene.

More info about this panel

Congenital Myasthenic Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital Myasthenic that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 AGRN GFPT1

More info about this panel

Congenital Myasthenic Syndromes: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Myasthenic Syndromes: Sequencing Panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 MUSK

More info about this panel

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

Congenital Myasthenic Syndromes: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Myasthenic Syndromes: Deletion/Duplication Panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 MUSK

More info about this panel

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

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

Congenital Myasthenic Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Congenital Myasthenic Syndrome NGS Panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 AGRN GFPT1

More info about this panel

RAPSN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RAPSN gene.

More info about this panel

Congenital Myasthenic Syndromes Panel Panel

Finland.

By Blueprint Genetics Congenital Myasthenic Syndromes Panel that also includes the following genes: SCN4A STIM1 CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ FLAD1

More info about this panel

Central Hypoventilation and Apnea Panel Panel

Finland.

By Blueprint Genetics Central Hypoventilation and Apnea Panel that also includes the following genes: SCN4A SLC6A5 ZEB2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ EDN3

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

Comprehensive Pulmonology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7

More info about this panel

Congenital myasthenic syndrome Panel

Spain.

By Bioarray

This panel specifically test the RAPSN gene.

More info about this panel

ARTHROGRYPOSIS MULTIPLEX CONGENITA, PENA-SHOKEIR SYNDROME TYPE 1 Panel

Spain.

By Laboratorio de Genetica Clinica SL ARTHROGRYPOSIS MULTIPLEX CONGENITA, PENA-SHOKEIR SYNDROME TYPE 1 that also includes the following genes: DOK7 RAPSN

More info about this panel

MYASTHENIC SYNDROME WITH RAPSYN DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the RAPSN gene.

More info about this panel

PENA-SHOKEIR SYNDROME TYPE 1 (ARTHROGRYPOSIS MULTIPLEX CONGENITA) Panel

Spain.

By Laboratorio de Genetica Clinica SL PENA-SHOKEIR SYNDROME TYPE 1 (ARTHROGRYPOSIS MULTIPLEX CONGENITA) that also includes the following genes: DOK7 RAPSN

More info about this panel

MYASTHENIC SYNDROME, CONGENITAL NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL MYASTHENIC SYNDROME, CONGENITAL NGS PANEL that also includes the following genes: SCN4A SLC18A3 SYT2 SLC5A7 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1

More info about this panel

ARTHROGRYPOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ARTHROGRYPOSIS NGS PANEL that also includes the following genes: TNNI2 TNNT3 TPM2 UBA1 VPS33B SYNE1 FKBP10 NALCN VIPAS39 ZC4H2

More info about this panel

Congenital Myasthenia , Sequencing RAPSN Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the RAPSN gene.

More info about this panel

Pena-Shokeir Type 1 Syndrome, Sequencing RAPSN Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the RAPSN gene.

More info about this panel

Congenital Myasthenia , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Myasthenia , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 AGRN GFPT1

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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

Pena-Shokeir Type 1 Syndrome, Panel Massive Sequencing (NGS) DOK7, RAPSN, MUSK Genes Panel

Spain.

By Reference Laboratory Genetics Pena-Shokeir Type 1 Syndrome, Panel Massive Sequencing (NGS) DOK7, RAPSN, MUSK Genes that also includes the following genes: DOK7 MUSK RAPSN

More info about this panel


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