Episodic Pain Syndrome, Familial, 2; Feps2

Table of contents:

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

Description

Familial episodic pain syndrome-2 is an autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities (summary by Faber et al., 2012).For a discussion of genetic heterogeneity of familial episodic pain syndrome, see {615040}.

Genes related to Episodic Pain Syndrome, Familial, 2; Feps2

SCN10A

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Clinical Features

Phenotypes and symptoms related to Episodic Pain Syndrome, Familial, 2; Feps2

Pain
Diabetes mellitus
Type I diabetes mellitus
Hyperalgesia
Allodynia

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.

Episodic Pain Syndrome, Familial, 2; Feps2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cardiac Arrhythmia Gene Panel. By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital (New Zealand). RYR2, SCN10A, SCN1B, SCN5A, TNNI3, TNNT2, TPM1, CACNA1C, CACNB2, CASQ2, RBM20, DSC2, DSG2, DSP, GLA, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2 , (...) View the complete list with 8 more genes Panel complete gene list RYR2, SCN10A, SCN1B, SCN5A, TNNI3, TNNT2, TPM1, CACNA1C, CACNB2, CASQ2, RBM20, DSC2, DSG2, DSP, GLA, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, MYBPC3, MYH6, MYH7, MYL2, PKP2, BAG3 Specificity 4 % Genes 100 %
SCN10A. By Institute for Human Genetics University Clinic Freiburg (Germany). SCN10A Specificity 100 % Genes 100 %
Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SNTA1, TNNT2, TRDN, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, SLMAP, HCN4 , (...) View the complete list with 27 more genes Panel complete gene list RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SNTA1, TNNT2, TRDN, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, SLMAP, HCN4, RANGRF, TRPM4, SCN3B, GPD1L, DPP6, AKAP9, GJA5, ANK2, ABCC9, KCNA5, KCND3, KCNE1, KCNE5, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LMNA, ASPH, NPPA, PKP2, PLN, PRKAG2 Specificity 3 % Genes 100 %
SCN10A. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). SCN10A Specificity 100 % Genes 100 %
Familial episodic pain syndrome, 2 (sequencing analysis of SCN10A gene). By CGC Genetics (Portugal). SCN10A Specificity 100 % Genes 100 %
Familial episodic pain syndrome, 2 (sequencing analysis of SCN10A gene). By CGC Genetics (Portugal). SCN10A Specificity 100 % Genes 100 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RORB, SCN10A, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC17A5, SLC1A2, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMARCA2, SMC1A, SNAP25, SON, SPTAN1 , (...) View the complete list with 133 more genes Panel complete gene list RORB, SCN10A, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC17A5, SLC1A2, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMARCA2, SMC1A, SNAP25, SON, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TCF4, TSC1, TSC2, TUBA8, TUBB2A, TUBG1, UBE3A, WWOX, FRRS1L, CNTNAP2, CACNA1A, CACNA1H, CACNB4, NPRL3, CAD, PCDH19, ARHGEF9, ZEB2, CASK, ARFGEF2, PLCB1, SLC19A3, SCARB2, BCKDK, PRICKLE1, CPA6, ACY1, ARX, SPATA5, ATP6AP2, DEPDC5, STX1B, IER3IP1, KCNT1, CHD2, DOCK7, TNK2, CHRNA2, CHRNA4, CHRNB2, SLC25A22, AARS, CLCN2, MBD5, TPP1, CLN3, CLN5, TUBA1A, CLN6, TUBB3, CLN8, NACC1, FARS2, NHLRC1, BRAT1, KCTD7, SLC13A5, PIGO, CRH, NECAP1, CSTB, NPRL2, CTSD, CTSF, CARS2, PIGG, PIGV, DCX, MFSD8, WDR45, SZT2, IQSEC2, ADSL, TBC1D24, NEXMIF, ROGDI, DNM1, PNPO, PRRT2, SRPX2, TUBB2B, ALG13, DYRK1A, EEF1A2, EPM2A, FOLR1, FOXG1, MTOR, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GFAP, GNAO1, GNB1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRIN2D, HCN1, HCN2, HNRNPU, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, LGI1, LMNB2, MECP2, MEF2C, NEDD4L, ATP1A2, NRXN1, ATP1A3, ALDH7A1, PIGA, PNKP, POLG, PPT1, PLPBP, PURA, QARS, RELN Specificity 1 % Genes 100 %
Episodic Pain Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SCN10A, SCN11A, SCN9A Specificity 34 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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