Ullrich Congenital Muscular Dystrophy 1; Ucmd1

Description

Ullrich congenital muscular dystrophy is characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis. Some patients manifest at birth and never achieve independent ambulation, whereas others maintain ambulation into adulthood. Progressive scoliosis and deterioration of respiratory function is a typical feature (summary by Kirschner, 2013). Genetic Heterogeneity of Ullrich Congenital Muscular DystrophyUCMD2 (OMIM ) is caused by mutation in the COL12A1 gene (OMIM ) on chromosome 6q.

Clinical Features

Top most frequent phenotypes and symptoms related to Ullrich Congenital Muscular Dystrophy 1; Ucmd1

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Micrognathia
  • Failure to thrive
  • Motor delay
  • Muscle weakness
  • Myopathy
  • Flexion contracture
And another 63 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Ullrich Congenital Muscular Dystrophy 1; Ucmd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1 , (...)

View the complete list with 124 more genes
Specificity
3 %
Genes
100 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB , (...)

View the complete list with 91 more genes
Specificity
4 %
Genes
100 %
Congenital Myopathy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

HRAS, NEB, DNM2, SCN4A, TTN, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
25 %
Congenital Myopathy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

HRAS, NEB, DNM2, SCN4A, TTN, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
25 %
Bethlem Myopathy and Ullrich Muscular Dystrophy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
100 %
Genes
100 %
Type VI-Related Collagenopathy via the COL12A1 Gene.

By PreventionGenetics PreventionGenetics in United States.

COL12A1
Specificity
100 %
Genes
25 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, ALDH18A1, SLC39A13, COL5A1, COL5A2, PLOD1, PLP1, ADAMTS2, FLNA, ADAMTSL2, SMAD3, TGFBR1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
25 %
Congenital Myopathy Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

NEB, DNM2, LMNA, TTN, KLHL9, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1 , (...)

View the complete list with 10 more genes
Specificity
14 %
Genes
100 %
Type VI-Related Collagenopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
100 %
Genes
100 %
Congenital Muscular Dystrophy Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

DPM3, DPM1, DMD, FKTN, POMGNT1, LMNA, FKRP, EMD, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3 , (...)

View the complete list with 7 more genes
Specificity
15 %
Genes
100 %
Comprehensive Neuromuscular Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE , (...)

View the complete list with 104 more genes
Specificity
4 %
Genes
100 %
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel.

By Connective Tissue Gene Tests in United States.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
100 %
Genes
100 %
Bethlem myopathy & Ullrich congenital muscular dystrophy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
100 %
Genes
100 %
Bethlem myopathy & Ullrich congenital muscular dystrophy Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, SLC39A13, PLOD1, ADAMTS2, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, B3GALT6, DSE
Specificity
9 %
Genes
25 %
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, C1S, C1R, B3GALT6, DSE
Specificity
5 %
Genes
25 %
Ehlers-Danlos syndrome Comprehensive panel - Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, SLC39A13, PLOD1, ADAMTS2, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, B3GALT6, DSE
Specificity
9 %
Genes
25 %
Ehlers-Danlos syndrome Comprehensive panel - Dominant.

By Connective Tissue Gene Tests in United States.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA, COL12A1, C1S, C1R
Specificity
12 %
Genes
25 %
Ehlers-Danlos syndrome NGS panel - Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, SLC39A13, PLOD1, ADAMTS2, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, B3GALT6, DSE
Specificity
9 %
Genes
25 %
Ehlers-Danlos syndrome NGS panel - Dominant.

By Connective Tissue Gene Tests in United States.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA, COL12A1, C1S, C1R
Specificity
12 %
Genes
25 %
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant.

By Connective Tissue Gene Tests in United States.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA, COL12A1, C1S, C1R
Specificity
12 %
Genes
25 %
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, C1S, C1R, B3GALT6, DSE
Specificity
5 %
Genes
25 %
Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, C1S, C1R, B3GALT6, DSE
Specificity
5 %
Genes
25 %
COL12A1.

By MGZ Medical Genetics Center in Germany.

COL12A1
Specificity
100 %
Genes
25 %
Congenital Muscular Dystrophy, Collagen Type VI-Associated (Bethlem/Ullrich) and Phenocopies.

By MGZ Medical Genetics Center in Germany.

COL6A2, COL6A3, COL6A1, FKBP14, TNXB, COL12A1, PIEZO2
Specificity
58 %
Genes
100 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...)

View the complete list with 159 more genes
Specificity
3 %
Genes
100 %
Bethlem myopathy panel.

By Centogene AG - the Rare Disease Company in Germany.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Bethlem myopathy.

By Centogene AG - the Rare Disease Company in Germany.

COL12A1
Specificity
100 %
Genes
25 %
Congenital and Distal Myopathies Panel.

By CeGaT GmbH in Germany.

YARS2, TWNK, OPA1, GNE, TRIM32, POLG, RRM2B, CRYAB, VCP, SUCLA2, POLG2, TK2, PUS1, ISCU, NEB, DNM2, PABPN1, CAV3, DYSF, TTN , (...)

View the complete list with 53 more genes
Specificity
6 %
Genes
100 %
Congenital Myopathy and Distal Myopathy NGS panel.

By Asper Biogene Asper Biogene LLC in Estonia.

GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON , (...)

View the complete list with 21 more genes
Specificity
8 %
Genes
75 %
COL12A1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL12A1
Specificity
100 %
Genes
25 %
BM/UCMD gene panel.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
100 %
Genes
100 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded).

By Genome Diagnostics VU University Medical Center in Netherlands.

B4GALT7, COL1A1, COL1A2, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE, FLNB
Specificity
5 %
Genes
25 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1.

By Genome Diagnostics VU University Medical Center in Netherlands.

B4GALT7, COL1A1, COL1A2, FBN1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
25 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded).

By Genome Diagnostics VU University Medical Center in Netherlands.

B4GALT7, COL1A1, COL1A2, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE, FLNB
Specificity
5 %
Genes
25 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1.

By Genome Diagnostics VU University Medical Center in Netherlands.

B4GALT7, COL1A1, COL1A2, COL3A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
25 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA.

By Genome Diagnostics VU University Medical Center in Netherlands.

B4GALT7, COL1A1, COL1A2, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
25 %
Type VI Collagenopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
100 %
Genes
100 %
COL12A1.

By Fulgent Genetics Fulgent Genetics in United States.

COL12A1
Specificity
100 %
Genes
25 %
Collagen Type VI-Related Disorders Panel.

By Blueprint Genetics in Finland.

COL6A2, COL6A3, COL6A1, COL4A1, COL12A1, COL4A2
Specificity
67 %
Genes
100 %
Comprehensive Muscular Dystrophy / Myopathy Panel.

By Blueprint Genetics in Finland.

GAA, TRIM32, POLG, CRYAB, PNPLA2, SEPT9, DMD, FKTN, NEB, SGCA, SGCB, SGCG, CAPN3, LMNA, PABPN1, FKRP, CAV3, DYSF, TTN, DES , (...)

View the complete list with 53 more genes
Specificity
6 %
Genes
100 %
Myopathy Type Bethlem, Panel Sequencing Massive (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
100 %
Genes
100 %
Ullrich Congenital Muscular Dystrophy , Panel Massive Sequencing (NGS) COL6A1,COL6A2,COL6A3,COL12A1 Genes.

By Reference Laboratory Genetics in Spain.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
100 %
Genes
100 %
Congenital Muscular Dystrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

FKTN, POMGNT1, DNM2, LMNA, FKRP, FHL1, SELENON, POMT2, POMT1, TCAP, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1 , (...)

View the complete list with 3 more genes
Specificity
14 %
Genes
75 %
Comprehensive Neuromuscular Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN , (...)

View the complete list with 59 more genes
Specificity
4 %
Genes
75 %
Congenital Muscular Dystrophy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7
Specificity
15 %
Genes
75 %
Limb-Girdle Muscular Dystrophy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...)

View the complete list with 14 more genes
Specificity
9 %
Genes
75 %
Congenital Muscular Dystrophy Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago in United States.

GAA, DPM3, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, SYNE1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1 , (...)

View the complete list with 6 more genes
Specificity
12 %
Genes
75 %
Congenital Muscular Dystrophy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GAA, DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, SYNE1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2 , (...)

View the complete list with 7 more genes
Specificity
12 %
Genes
75 %
Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago in United States.

LMNA, MYH7, SELENON, RYR1, KLHL40, SYNE1, TMEM43, SYNE2, EMD, LAMA2, COL6A2, COL6A3, COL6A1
Specificity
24 %
Genes
75 %
Congenital Myopathy with Prominent Contractures Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

LMNA, MYH7, SELENON, RYR1, KLHL40, SYNE1, TMEM43, SYNE2, EMD, LAMA2, COL6A2, COL6A3, COL6A1
Specificity
24 %
Genes
75 %
COL6A3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL6A3
Specificity
100 %
Genes
25 %
COL6A3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL6A3
Specificity
100 %
Genes
25 %
Ullrich congenital muscular dystrophy (NGS panel for 3 genes).

By CGC Genetics in Portugal.

COL6A2, COL6A3, COL6A1
Specificity
100 %
Genes
75 %
Bethlem myopathy (NGS panel of 3 genes).

By CGC Genetics in Portugal.

COL6A2, COL6A3, COL6A1
Specificity
100 %
Genes
75 %
Ullrich congenital muscular dystrophy (sequence analysis of COL6A3 gene).

By CGC Genetics in Portugal.

COL6A3
Specificity
100 %
Genes
25 %
Congenital muscular dystrophies (NGS panel for 31 genes).

By CGC Genetics in Portugal.

CAVIN1, DMD, FKTN, POMGNT1, DNM2, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP , (...)

View the complete list with 11 more genes
Specificity
10 %
Genes
75 %
Dystonia (NGS panel for 43 genes).

By CGC Genetics in Portugal.

ATP7B, AUH, PANK2, SMPD1, MECP2, SPR, TIMM8A, HEXA, GCDH, PRKN, PNKD, ARSA, NPC1, NPC2, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
25 %
Bethlem myopathy (deletions/duplications analysis of COL6A3 gene).

By CGC Genetics in Portugal.

COL6A3
Specificity
100 %
Genes
25 %
Bethlem myopathy (deletions/duplications analysis of COL6A3 gene).

By CGC Genetics in Portugal.

COL6A3
Specificity
100 %
Genes
25 %
Type VI Collagenopathy via the COL6A3 Gene.

By PreventionGenetics PreventionGenetics in United States.

COL6A3
Specificity
100 %
Genes
25 %
Ullrich muscular dystrophy, Bethlem muscular dystrophy.

By Institute of Human Genetics Cologne University in Germany.

COL6A2, COL6A3, COL6A1
Specificity
100 %
Genes
75 %
Ullrich congenital muscular dystrophy.

By Institute of Human Genetics Cologne University in Germany.

COL6A2, COL6A3, COL6A1
Specificity
100 %
Genes
75 %
Myopathy – Rigid Spine.

By MGZ Medical Genetics Center in Germany.

GAA, LMNA, FHL1, SELENON, RYR1, EMD, LAMA2, COL6A2, COL6A3, COL6A1
Specificity
30 %
Genes
75 %
Collagen Type VI-Related Disorders.

By MGZ Medical Genetics Center in Germany.

COL6A2, COL6A3, COL6A1
Specificity
100 %
Genes
75 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
25 %
Newborn: “Floppy Infant “.

By MGZ Medical Genetics Center in Germany.

GAA, GARS, MFN2, ALG2, CHAT, GBE1, DPAGT1, CHRNE, DOK7, FKTN, NEB, POMGNT1, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA , (...)

View the complete list with 53 more genes
Specificity
5 %
Genes
75 %
Muscle Disease with Contractures and/or Rigid Spine.

By MGZ Medical Genetics Center in Germany.

GAA, NEB, CAPN3, RAPSN, DNM2, LMNA, FHL1, SELENON, RYR1, KLHL40, TPM3, ACTA1, KBTBD13, CFL2, TPM2, TNNT1, SYNE1, TMEM43, SYNE2, EMD , (...)

View the complete list with 6 more genes
Specificity
12 %
Genes
75 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR).

By MGZ Medical Genetics Center in Germany.

ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM , (...)

View the complete list with 70 more genes
Specificity
4 %
Genes
75 %
Bethlem Panel.

By FirmaLab in United States.

COL6A2, COL6A3, COL6A1
Specificity
100 %
Genes
75 %
Ullrich congenital muscular dystrophy.

By Centogene AG - the Rare Disease Company in Germany.

COL6A3
Specificity
100 %
Genes
25 %
Ullrich muscular dystrophy panel.

By Centogene AG - the Rare Disease Company in Germany.

COL6A2, COL6A3, COL6A1
Specificity
100 %
Genes
75 %
Bethlem myopathy.

By Centogene AG - the Rare Disease Company in Germany.

COL6A3
Specificity
100 %
Genes
25 %
Primary Torsion Dystonia Panel.

By CeGaT GmbH in Germany.

ATM, TOR1A, THAP1, COL6A3, TUBB4A, ANO3, HPCA, GNAL, CIZ1
Specificity
12 %
Genes
25 %
Muscular Dystrophies Panel.

By CeGaT GmbH in Germany.

CAVIN1, DPM1, DMD, FKTN, POMGNT1, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP , (...)

View the complete list with 12 more genes
Specificity
10 %
Genes
75 %
Dystonia All Panel.

By CeGaT GmbH in Germany.

ATP7A, ATP7B, AUH, PANK2, MECP2, SPR, TIMM8A, HEXA, SLC25A15, GCDH, CYP27A1, PRKN, CLN3, PNKD, ARSA, ARX, NPC1, NPC2, SLC2A1, ATM , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
25 %
Single gene testing COL6A3.

By CeGaT GmbH in Germany.

COL6A3
Specificity
100 %
Genes
25 %
Bethlem myopathy.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

COL6A2, COL6A3, COL6A1
Specificity
100 %
Genes
75 %
Dystonia.

By Asper Biogene Asper Biogene LLC in Estonia.

ATP7B, PANK2, SPR, TIMM8A, GCDH, PRKN, PNKD, ARSA, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, COL6A3, ATP1A3, KCNMA1, PRRT2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
25 %
COL6A3 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL6A3
Specificity
100 %
Genes
25 %
Invitae Comprehensive Neuromuscular Disorders Panel.

By Invitae in United States.

GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB , (...)

View the complete list with 84 more genes
Specificity
3 %
Genes
75 %
Invitae Type VI Collagenopathy Panel.

By Invitae in United States.

COL6A2, COL6A3, COL6A1
Specificity
100 %
Genes
75 %
Invitae Comprehensive Muscular Dystrophy Panel.

By Invitae in United States.

GAA, TRIM32, DPM3, PNPLA2, DPM1, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT , (...)

View the complete list with 26 more genes
Specificity
7 %
Genes
75 %
Invitae Congenital Muscular Dystrophy Panel.

By Invitae in United States.

DPM3, DPM1, DMD, FKTN, POMGNT1, LMNA, FKRP, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3 , (...)

View the complete list with 6 more genes
Specificity
12 %
Genes
75 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel.

By Invitae in United States.

TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA , (...)

View the complete list with 93 more genes
Specificity
3 %
Genes
75 %
Invitae Congenital Myopathy Panel.

By Invitae in United States.

NEB, DNM2, TTN, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, COL6A2, COL6A3 , (...)

View the complete list with 6 more genes
Specificity
12 %
Genes
75 %
Invitae Comprehensive Myopathy Panel.

By Invitae in United States.

CPT2, GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, LMNA, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3 , (...)

View the complete list with 30 more genes
Specificity
6 %
Genes
75 %
DYSTROPHIES, CONGENITAL MUSCULAR.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

FKTN, POMGNT1, FKRP, SELENON, POMT2, POMT1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7
Specificity
25 %
Genes
75 %
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A3 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL6A3
Specificity
100 %
Genes
25 %
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL6A2, COL6A3, COL6A1
Specificity
100 %
Genes
75 %
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A1-3 Gene Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL6A2, COL6A3, COL6A1
Specificity
100 %
Genes
75 %
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A3 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL6A3
Specificity
100 %
Genes
25 %
Congenital Muscular Dystrophy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3 , (...)

View the complete list with 4 more genes
Specificity
13 %
Genes
75 %
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, PYGM, PMM2, DMD, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES , (...)

View the complete list with 26 more genes
Specificity
7 %
Genes
75 %
Expanded Neuromuscular Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)

View the complete list with 58 more genes
Specificity
4 %
Genes
75 %
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...)

View the complete list with 14 more genes
Specificity
9 %
Genes
75 %
Dystonia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
25 %
Congenital Muscular Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3 , (...)

View the complete list with 4 more genes
Specificity
13 %
Genes
75 %
Expanded Neuromuscular Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)

View the complete list with 57 more genes
Specificity
4 %
Genes
75 %
Neuromuscular NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TRIM32, PMM2, DMD, FKTN, NEB, PEX2, SGCA, SGCB, PEX1, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES, ANO5 , (...)

View the complete list with 30 more genes
Specificity
6 %
Genes
75 %
COL6A3.

By Fulgent Genetics Fulgent Genetics in United States.

COL6A3
Specificity
100 %
Genes
25 %
Ullrich Congenital Muscular Dystrophy.

By Bioarray in Spain.

COL6A3
Specificity
100 %
Genes
25 %
Bethlem Myopathy.

By Bioarray in Spain.

COL6A3
Specificity
100 %
Genes
25 %
BETHLEM MYOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

COL6A2, COL6A3, COL6A1
Specificity
100 %
Genes
75 %
MUSCULAR DYSTROPHY, ULLRICH.

By Laboratorio de Genetica Clinica SL in Spain.

COL6A2, COL6A3, COL6A1
Specificity
100 %
Genes
75 %
Ullrich Congenital Muscular Dystrophy , Sequencing COL6A3 Gene.

By Reference Laboratory Genetics in Spain.

COL6A3
Specificity
100 %
Genes
25 %
Myopathy Type Bethlem, Sequencing COL6A3 Gene.

By Reference Laboratory Genetics in Spain.

COL6A3
Specificity
100 %
Genes
25 %
Congenital Muscular Dystrophies, Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

FKTN, POMGNT1, FKRP, SELENON, POMT2, POMT1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7
Specificity
25 %
Genes
75 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.

By Reference Laboratory Genetics in Spain.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7 , (...)

View the complete list with 91 more genes
Specificity
3 %
Genes
75 %
COL6A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL6A1
Specificity
100 %
Genes
25 %
COL6A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL6A1
Specificity
100 %
Genes
25 %
Ullrich congenital muscular dystrophy (sequence analysis of COL6A1 gene).

By CGC Genetics in Portugal.

COL6A1
Specificity
100 %
Genes
25 %
Bethlem myopathy (deletions/duplicaions analysis of COL6A1 gene).

By CGC Genetics in Portugal.

COL6A1
Specificity
100 %
Genes
25 %
Bethlem myopathy (deletions/duplicaions analysis of COL6A1 gene).

By CGC Genetics in Portugal.

COL6A1
Specificity
100 %
Genes
25 %
Type VI Collagenopathy via the COL6A1 Gene.

By PreventionGenetics PreventionGenetics in United States.

COL6A1
Specificity
100 %
Genes
25 %
Ullrich Congenital Muscular Dystrophy.

By GeneTech ATS GeneTech Private Limited in India.

COL6A1
Specificity
100 %
Genes
25 %
Ullrich congenital muscular dystrophy.

By Centogene AG - the Rare Disease Company in Germany.

COL6A1
Specificity
100 %
Genes
25 %
Bethlem myopathy.

By Centogene AG - the Rare Disease Company in Germany.

COL6A1
Specificity
100 %
Genes
25 %
COL6A1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL6A1
Specificity
100 %
Genes
25 %
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A1 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL6A1
Specificity
100 %
Genes
25 %
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL6A1
Specificity
100 %
Genes
25 %
COL6A1.

By Fulgent Genetics Fulgent Genetics in United States.

COL6A1
Specificity
100 %
Genes
25 %
Bethlem Myopathy.

By Bioarray in Spain.

COL6A1
Specificity
100 %
Genes
25 %
Ullrich Congenital Muscular Dystrophy.

By Bioarray in Spain.

COL6A1
Specificity
100 %
Genes
25 %
Myopathy Type Bethlem, Sequencing COL6A1 Gene.

By Reference Laboratory Genetics in Spain.

COL6A1
Specificity
100 %
Genes
25 %
Ullrich Congenital Muscular Dystrophy , Sequencing COL6A1 Gene.

By Reference Laboratory Genetics in Spain.

COL6A1
Specificity
100 %
Genes
25 %
COL6A2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL6A2
Specificity
100 %
Genes
25 %
COL6A2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL6A2
Specificity
100 %
Genes
25 %
Ullrich congenital muscular dystrophy (sequence analysis of COL6A2 gene).

By CGC Genetics in Portugal.

COL6A2
Specificity
100 %
Genes
25 %
Bethlem myopathy (deletions/duplications analysis of COL6A2 gene).

By CGC Genetics in Portugal.

COL6A2
Specificity
100 %
Genes
25 %
Bethlem myopathy (deletions/duplications analysis of COL6A2 gene).

By CGC Genetics in Portugal.

COL6A2
Specificity
100 %
Genes
25 %
Type VI Collagenopathy via the COL6A2 Gene.

By PreventionGenetics PreventionGenetics in United States.

COL6A2
Specificity
100 %
Genes
25 %
Ullrich congenital muscular dystrophy.

By Centogene AG - the Rare Disease Company in Germany.

COL6A2
Specificity
100 %
Genes
25 %
Myosclerosis, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

COL6A2
Specificity
100 %
Genes
25 %
Bethlem myopathy.

By Centogene AG - the Rare Disease Company in Germany.

COL6A2
Specificity
100 %
Genes
25 %
COL6A2 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL6A2
Specificity
100 %
Genes
25 %
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A2 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL6A2
Specificity
100 %
Genes
25 %
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A2 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL6A2
Specificity
100 %
Genes
25 %
COL6A2.

By Fulgent Genetics Fulgent Genetics in United States.

COL6A2
Specificity
100 %
Genes
25 %
Arthrogryposes Panel.

By Blueprint Genetics in Finland.

FKBP10, RARS2, TK2, PLOD2, SCO2, CHAT, GBE1, PMM2, DPAGT1, GBA, CHRNE, DOK7, FKTN, NEB, RAPSN, TRPV4, MPZ, EGR2, FHL1, SELENON , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
25 %
Bethlem Myopathy.

By Bioarray in Spain.

COL6A2
Specificity
100 %
Genes
25 %
Ullrich Congenital Muscular Dystrophy.

By Bioarray in Spain.

COL6A2
Specificity
100 %
Genes
25 %
Ullrich Congenital Muscular Dystrophy , Sequencing COL6A2 Gene.

By Reference Laboratory Genetics in Spain.

COL6A2
Specificity
100 %
Genes
25 %
Myopathy Type Bethlem, Sequencing COL6A2 Gene.

By Reference Laboratory Genetics in Spain.

COL6A2
Specificity
100 %
Genes
25 %

Alternate names

Ullrich Congenital Muscular Dystrophy 1; Ucmd1 Is also known as ullrich congenital muscular dystrophy;ucmd, muscular dystrophy, scleroatonic, ullrich disease, ullrich scleroatonic muscular dystrophy;scleroatonic muscular dystrophy; ucmd; ullrich disease.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SCHWANNOMATOSIS 1; SWNTS1

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