Postsynaptic Congenital Myasthenic Syndromes

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Postsynaptic Congenital Myasthenic Syndromes

SCN4A
LRP4
DOK7
MUSK
RAPSN
CHRNA1
CHRND
CHRNE
CHRNB1
COL13A1
AGRN
AK9

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Postsynaptic Congenital Myasthenic Syndromes

Scoliosis
Muscle weakness
Ptosis
High palate
Skeletal muscle atrophy
Respiratory failure
Facial palsy
Abnormality of eye movement
Cyanosis
Diplopia

And another 27 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Postsynaptic Congenital Myasthenic Syndromes extracted from public data.

Postsynaptic Congenital Myasthenic Syndromes Experts map

Current Researchs and researchers

ANTWERPEN — Pr Wim VAN HUL
Responsible for diagnostic tests - Investigator of research project - Director of laboratory
- Institution/s:
  — Center for Medical Genetics - University Antwerp, University of Antwerp - UA
  — Center of Medical Genetics, Centrum Medische Genetica - UZA
- Research area/topic::
  Study on the role of LRP4 in the regulation of Wnt signaling and bone formation.

ANTWERPEN-EDEGEM — Pr Wim VAN HUL
Responsible for diagnostic tests - Investigator of research project - Director of laboratory
- Institution/s:
  — Center for Medical Genetics - University Antwerp, University of Antwerp - UA
  — Center of Medical Genetics, Centrum Medische Genetica - UZA
- Research area/topic::
  Study on the role of LRP4 in the regulation of Wnt signaling and bone formation.

Postsynaptic Congenital Myasthenic Syndromes Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SCN4A (Myotonia) DNA Sequencing Test. By Athena Diagnostics Inc (United States). SCN4A Specificity 100 % Genes 9 %
Early Onset Myotonia Evaluation. By Athena Diagnostics Inc (United States). SCN4A, CLCN1, DMPK Specificity 34 % Genes 9 %
Myotonic Syndrome Advanced Evaluation. By Athena Diagnostics Inc (United States). SCN4A, CNBP, CAV3, CLCN1, DMPK, HSPG2, ATP2A1 Specificity 15 % Genes 9 %
Periodic Paralysis Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). SCN4A, CACNA1S, KCNJ2 Specificity 34 % Genes 9 %
Congenital Myasthenic Syndrome Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). SCN4A, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, AGRN, GFPT1, MUSK, RAPSN Specificity 70 % Genes 75 %
Neuromuscular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...) View the complete list with 124 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, UBA1, VCP, VRK1, ACTA1, RXYLT1, FBXL4, CACNA1S, SLC5A7, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, BSCL2, SELENON, LIMS2, MGME1, TRIM32, FIG4, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, BICD2, RRM2B, FKRP, TRPV4, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, CLCN1, CNTN1, AGK, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, GNE, CRYAB, SIL1, LAS1L, TRAPPC11, REEP1, POMGNT2, MTMR14, POMK, DOK7, DAG1, DCTN1, ANO5, DES, STAC3, TMEM43, B3GALNT2, SMCHD1, PLEKHG5, DMD, TOR1AIP1, DYNC1H1, MEGF10, DNM2, DNMT1, DPM1, DPM2, DPM3, HSPB8, KLHL40, PNPLA2, DYSF, TYMP, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GAN, GARS, GLE1, SETX, AMPD1, HINT1, HNRNPDL, HSPB1, IGHMBP2, ITGA7, LAMA2, LAMP2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYF6, MYH2, MYH7, NEB, ATP2A1, PABPN1, ATP7A, PHKA1, PLEC, PMM2, POLG, POLG2, POMT1, BAG3, CAVIN1, PYGM, RAPSN Specificity 6 % Genes 67 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...) View the complete list with 27 more genes Panel complete gene list RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD, ISCU, FDX2, DYSF, AGL, ENO3, ETFA, ETFB, ETFDH, FKTN, GAA, ALDOA, AMPD1, HADHA, HADHB, LDHA, MT-CYB, ATP2A1, PFKM, PGAM2, PGK1, ACADM, PGM1, PHKA1, PHKB, POLG, ACADVL, PYGM Specificity 3 % Genes 9 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...) View the complete list with 27 more genes Panel complete gene list RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD, ISCU, FDX2, DYSF, AGL, ENO3, ETFA, ETFB, ETFDH, FKTN, GAA, ALDOA, AMPD1, HADHA, HADHB, LDHA, MT-CYB, ATP2A1, PFKM, PGAM2, PGK1, ACADM, PGM1, PHKA1, PHKB, POLG, ACADVL, PYGM Specificity 3 % Genes 9 %