COL12A1 gene related symptoms and diseases

All the information presented here about the COL12A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to COL12A1 gene

Symptoms // Phenotype % Cases
Scoliosis Very Common - Between 80% and 100% cases
Flexion contracture Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with COL12A1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Facial palsy
  • Respiratory insufficiency
  • Myopathy
  • Hyperextensibility at wrists
  • Increased laxity of fingers
  • Kyphoscoliosis
  • Congenital muscular dystrophy
  • Spinal rigidity

And 74 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to COL12A1 gene

Here you will find a list of rare diseases related to the COL12A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE


Alternate names

CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE Is also known as scleroatonic muscular dystrophy, ullrich disease, ucmd

Description

Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.

Most common symptoms of CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE

  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Flexion contracture


More info about CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE

SOURCES: ORPHANET

BETHLEM MYOPATHY


Alternate names

BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy, benign autosomal dominant myopathy, ullrich disease, ullrich congenital muscular dystrophy, muscular dystrophy, scleroatonic, ucmd

Description

Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

Most common symptoms of BETHLEM MYOPATHY

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Failure to thrive


More info about BETHLEM MYOPATHY

SOURCES: ORPHANET OMIM

ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2


Most common symptoms of ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2

  • Scoliosis
  • Flexion contracture
  • High palate
  • Motor delay
  • Respiratory insufficiency


More info about ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2

SOURCES: OMIM

BETHLEM MYOPATHY 2; BTHLM2


Alternate names

BETHLEM MYOPATHY 2; BTHLM2 Is also known as ehlers-danlos syndrome, myopathic type, edsmyp, eds, myopathic type

Most common symptoms of BETHLEM MYOPATHY 2; BTHLM2

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Myopathy


More info about BETHLEM MYOPATHY 2; BTHLM2

SOURCES: OMIM


Potential gene panels for COL12A1 gene

Neuromuscular Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2

More info about this panel

Neuromuscular Disorders Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2

More info about this panel

Congenital Myopathy Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON

More info about this panel

Congenital Myopathy Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Myopathy Deletion/Duplication Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON

More info about this panel

Bethlem Myopathy and Ullrich Muscular Dystrophy Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Bethlem Myopathy and Ullrich Muscular Dystrophy Sequencing Panel that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3

More info about this panel

Type VI-Related Collagenopathy via COL12A1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the COL12A1 gene.

More info about this panel

Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SPARC TGFBR1 TGFBR2 TNFRSF1A TNXB C1R C1S LZTS1 ADAMTSL2 B3GALT6

More info about this panel

Congenital Myopathy Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 MICU1 SELENON

More info about this panel

Type VI-Related Collagenopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Type VI-Related Collagenopathy Sequencing Panel with CNV Detection that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3

More info about this panel

Congenital Muscular Dystrophy Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Muscular Dystrophy Sequencing Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 CHKB POMT2 COL12A1 COL6A1 COL6A2 COL6A3

More info about this panel

Comprehensive Neuromuscular Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1

More info about this panel

Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel Panel

United States.

By Connective Tissue Gene Tests Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3

More info about this panel

Bethlem myopathy & Ullrich congenital muscular dystrophy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Bethlem myopathy & Ullrich congenital muscular dystrophy Comprehensive panel that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3

More info about this panel

Bethlem myopathy & Ullrich congenital muscular dystrophy Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Bethlem myopathy & Ullrich congenital muscular dystrophy Deletion/ Duplication panel that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3

More info about this panel

Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive that also includes the following genes: B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 ZNF469 CHST14 ATP7A PLOD1

More info about this panel

Ehlers-Danlos syndrome NGS panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1

More info about this panel

Ehlers-Danlos syndrome Comprehensive panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Recessive that also includes the following genes: B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 ZNF469 CHST14 ATP7A PLOD1

More info about this panel

Ehlers-Danlos syndrome Comprehensive panel - Dominant Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Dominant that also includes the following genes: C1R C1S COL12A1 COL1A2 COL3A1 COL5A1 COL5A2 FLNA

More info about this panel

Ehlers-Danlos syndrome NGS panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Recessive that also includes the following genes: B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 ZNF469 CHST14 ATP7A PLOD1

More info about this panel

Ehlers-Danlos syndrome NGS panel - Dominant Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Dominant that also includes the following genes: C1R C1S COL12A1 COL1A2 COL3A1 COL5A1 COL5A2 FLNA

More info about this panel

Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant that also includes the following genes: C1R C1S COL12A1 COL1A2 COL3A1 COL5A1 COL5A2 FLNA

More info about this panel

Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1

More info about this panel

Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1

More info about this panel

Connective tissue disorder Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel

Connective tissue disorder Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel

Connective tissue disorder NGS panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel

COL12A1 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the COL12A1 gene.

More info about this panel

Congenital Muscular Dystrophy, Collagen Type VI-Associated (Bethlem/Ullrich) and Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Congenital Muscular Dystrophy, Collagen Type VI-Associated (Bethlem/Ullrich) and Phenocopies that also includes the following genes: TNXB FKBP14 COL12A1 COL6A1 COL6A2 COL6A3 PIEZO2

More info about this panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5

More info about this panel

Bethlem myopathy panel Panel

Germany.

By Centogene AG - the Rare Disease Company Bethlem myopathy panel that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Bethlem myopathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the COL12A1 gene.

More info about this panel

Congenital and Distal Myopathies Panel Panel

Germany.

By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3

More info about this panel

Congenital Myopathy and Distal Myopathy NGS panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Congenital Myopathy and Distal Myopathy NGS panel that also includes the following genes: RYR1 SQSTM1 TIA1 TNNT1 TPM2 TPM3 MYOT TTN VCP ACTA1

More info about this panel

Ehlers-Danlos Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Ehlers-Danlos Syndrome that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TNXB C1R C1S B3GALT6 ATP6V0A2 FKBP14 RIN2

More info about this panel

COL12A1 mutational analysis Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital

This panel specifically test the COL12A1 gene.

More info about this panel

BM/UCMD gene panel Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital BM/UCMD gene panel that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3

More info about this panel

NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1

More info about this panel

NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1

More info about this panel

NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1

More info about this panel

NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1 Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1 that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1

More info about this panel

NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1

More info about this panel

Type VI Collagenopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Type VI Collagenopathy NGS Panel that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3

More info about this panel

COL12A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COL12A1 gene.

More info about this panel

Collagen Type VI-Related Disorders Panel Panel

Finland.

By Blueprint Genetics Collagen Type VI-Related Disorders Panel that also includes the following genes: COL12A1 COL4A1 COL4A2 COL6A1 COL6A2 COL6A3

More info about this panel

Comprehensive Muscular Dystrophy / Myopathy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN

More info about this panel

BETHLEM MYOPATHY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL BETHLEM MYOPATHY NGS PANEL that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3

More info about this panel

ULLRICH CONGENITAL MUSCULAR DYSTROPHY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ULLRICH CONGENITAL MUSCULAR DYSTROPHY NGS PANEL that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3

More info about this panel

Myopathy Type Bethlem, Panel Sequencing Massive (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Myopathy Type Bethlem, Panel Sequencing Massive (NGS) 4 Genes that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3

More info about this panel

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

Spain.

By Reference Laboratory Genetics Ullrich Congenital Muscular Dystrophy , Panel Massive Sequencing (NGS) COL6A1,COL6A2,COL6A3,COL12A1 Genes that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3

More info about this panel


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