Bethlem Myopathy 2; Bthlm2

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 Bethlem Myopathy 2; Bthlm2

COL12A1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Bethlem Myopathy 2; Bthlm2

Generalized hypotonia
Scoliosis
Muscle weakness
Flexion contracture
Myopathy
Kyphosis
Elevated serum creatine phosphokinase
Joint laxity
Fasciculations
Elbow flexion contracture

And another 5 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.

Alternative names

Bethlem Myopathy 2; Bthlm2 Is also known as ehlers-danlos syndrome, myopathic type, edsmyp, eds, myopathic type.

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.

Bethlem Myopathy 2; Bthlm2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 1 % Genes 100 %
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 1 % Genes 100 %
Congenital Myopathy Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). RYR1, BIN1, SCN4A, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, SPEG, KLHL41, CFL2, CHKB, CNTN1, COL12A1, STAC3, MEGF10, DNM2, KLHL40 , (...) View the complete list with 8 more genes Panel complete gene list RYR1, BIN1, SCN4A, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, SPEG, KLHL41, CFL2, CHKB, CNTN1, COL12A1, STAC3, MEGF10, DNM2, KLHL40, KBTBD13, HRAS, LMOD3, MTM1, MYF6, MYH7, NEB, HACD1 Specificity 4 % Genes 100 %
Congenital Myopathy Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). RYR1, BIN1, SCN4A, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, SPEG, KLHL41, CFL2, CHKB, CNTN1, COL12A1, STAC3, MEGF10, DNM2, KLHL40 , (...) View the complete list with 8 more genes Panel complete gene list RYR1, BIN1, SCN4A, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, SPEG, KLHL41, CFL2, CHKB, CNTN1, COL12A1, STAC3, MEGF10, DNM2, KLHL40, KBTBD13, HRAS, LMOD3, MTM1, MYF6, MYH7, NEB, HACD1 Specificity 4 % Genes 100 %
Bethlem Myopathy and Ullrich Muscular Dystrophy Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). COL12A1, COL6A1, COL6A2, COL6A3 Specificity 25 % Genes 100 %
Type VI-Related Collagenopathy via COL12A1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). COL12A1 Specificity 100 % Genes 100 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SPARC, TGFBR1, TGFBR2, TNFRSF1A, TNXB, C1R, C1S, LZTS1, ADAMTSL2, B3GALT6, ATP6V0A2, FKBP14, RIN2, CHST3, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1 , (...) View the complete list with 24 more genes Panel complete gene list SPARC, TGFBR1, TGFBR2, TNFRSF1A, TNXB, C1R, C1S, LZTS1, ADAMTSL2, B3GALT6, ATP6V0A2, FKBP14, RIN2, CHST3, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14, GORAB, AEBP1, EFEMP2, ELN, FBLN5, FLNA, FLNB, GGCX, SMAD3, ATP6V1A, ATP6V1E1, ATP6AP1, ATP7A, PLOD1, PLP1, B3GAT3, B4GALT7, PRDM5, PYCR1, ALDH18A1 Specificity 3 % Genes 100 %
Congenital Myopathy Sequencing Panel. By PreventionGenetics PreventionGenetics (United States). RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, MICU1, SELENON, KLHL41, BICD2, MYO18B, KLHL9, CFL2, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3 , (...) View the complete list with 10 more genes Panel complete gene list RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, MICU1, SELENON, KLHL41, BICD2, MYO18B, KLHL9, CFL2, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, STAC3, MEGF10, DNM2, KLHL40, KBTBD13, LMNA, LMOD3, MTM1, MYH7, NEB Specificity 4 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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