Synaptic 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 Synaptic Congenital Myasthenic Syndromes

LAMB2
COLQ

View recommended genes panels

Clinical Features

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

Intellectual disability
Global developmental delay
Scoliosis
Muscle weakness
Abnormal facial shape
Muscular hypotonia
Ptosis
High palate
Skeletal muscle atrophy
Dysphagia

And another 44 symptoms. If you need more information about this disease we can help you.

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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

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Synaptic Congenital Myasthenic Syndromes Recommended genes panels

Panel Name, Specifity and genes Tested/covered
LAMB2 DNA Sequencing Test. By Athena Diagnostics Inc (United States). LAMB2 Specificity 100 % Genes 50 %
Early Onset Nephrotic Syndrome Evaluation. By Athena Diagnostics Inc (United States). WT1, NPHS2, PLCE1, LAMB2, NPHS1 Specificity 20 % Genes 50 %
Anterior segment defects. By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark). PORCN, B3GLCT, COL4A1, CYP1B1, EYA1, FOXC1, FOXE3, KERA, LAMB2, PAX2, PAX6, PITX2, PITX3 Specificity 8 % Genes 50 %
Neuromuscular Disorders Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1 , (...) View the complete list with 91 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, SELENON, LIMS2, TRIM32, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, FKRP, FKBP14, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, POMT2, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, ALG2, GNE, CRYAB, CHST14, SIL1, TRAPPC11, ORAI1, POMK, DOK7, DAG1, ANO5, DES, ALG14, STAC3, TMEM43, B3GALNT2, DMD, MEGF10, DNM2, DPAGT1, DPM1, DPM2, DPM3, PREPL, KLHL40, DYSF, AGRN, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GBE1, GFPT1, HNRNPDL, HRAS, ITGA7, LAMA2, LAMB2, LAMP2, LARGE1, LMNA, LMOD3, LRP4, MTM1, MUSK, MYF6, MYH2, MYH7, MYL2, NEB, PLEC, BAG3, HACD1, PYGM, RAPSN Specificity 2 % Genes 100 %
Exome PLUS Proteinuria/FSGS & Hematuria. By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States). CFB, TRPC6, TSC1, TSC2, C1QA, C1QC, WT1, C3, NPHS2, ADAMTS13, ACTN4, PLCE1, CLCN5, COL4A3, COL4A4, COL4A5, INF2, DGKE, ALMS1, GLA , (...) View the complete list with 12 more genes Panel complete gene list CFB, TRPC6, TSC1, TSC2, C1QA, C1QC, WT1, C3, NPHS2, ADAMTS13, ACTN4, PLCE1, CLCN5, COL4A3, COL4A4, COL4A5, INF2, DGKE, ALMS1, GLA, CFH, CFHR1, CFI, ITGB4, APOL1, LAMB2, LMX1B, CD46, MYH9, MYO1E, NPHS1, PAX2 Specificity 4 % Genes 50 %
LAMB2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). LAMB2 Specificity 100 % Genes 50 %
LAMB2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). LAMB2 Specificity 100 % Genes 50 %
Nephrotic syndrome type 5 (sequence analysis of LAMB2 gene). By CGC Genetics (Portugal). LAMB2 Specificity 100 % Genes 50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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