Description
Distal myopathies inclusion criteria (29562)
- Unexplained predominantly distal muscle weakness, onset at any age
- Acquired myopathies excluded by relevant clinical investigations
- Serum creatine kinase (CK) assessment
- Muscle Biopsy with immunohistochemistry (IH)
- Neurophysiology performed
- Muscle MRI (optional)
- Dried blood spot test for Pompe disease performed

Distal myopathies exclusion criteria (29562)

Prior genetic testing guidance (29562)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Distal myopathies prior genetic testing genes (29562)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
  - DMD analysis by MLPA or equivalent
  - FSHD1 and DM1 exclusion by conventional genetic testing
  - Exclusion by genetic testing of any gene indicated by IH
  - In the presence of evidence of myofibrillar myopathy on muscle biopsy IH exclusion of LDB3, MYOT, DES, CRYAB by sequencing

Closing statement (29562)
These requirements will be kept under continual review during the main programme and may be subject to change.

1 reviewer

  • Arianna Tucci (Genomics England Curator)

    Group: Other
    Workplace: Other

27 genes

27 reviewed, 23 green

List Gene Reviews Mode of inheritance Details
27 genes
Green Green List (high evidence)
ACTA1
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Nemaline myopathy 3, 161800
Green Green List (high evidence)
ANO5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Miyoshi muscular dystrophy 3, 613319
Green Green List (high evidence)
BAG3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • myofibrillar myopathy 6, 612954
Green Green List (high evidence)
CNBP
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myotonic dystrophy 2, 602668
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Green Green List (high evidence)
CRYAB
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Myopathy, myofibrillar 2, 608810
Green Green List (high evidence)
DES
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Myopathy, myofibrillar 1, 601419
Green Green List (high evidence)
DNAJB6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • limb-girdle muscular dystrophy type 1E, 603511
Green Green List (high evidence)
DNM2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myopathy, centronuclear, 160150
Green Green List (high evidence)
DYSF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Miyoshi muscular dystrophy 1, 254130
Green Green List (high evidence)
FHL1
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
Green Green List (high evidence)
FLNC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • myofibrillar myopathy 5, 609524
  • Distal myopathy 4, 614065
Green Green List (high evidence)
GNE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Nonaka myopathy, 605820
Green Green List (high evidence)
HSPB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neuropathy, distal hereditary motor type IIB, 608634
Green Green List (high evidence)
HSPB8
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Neuropathy, distal hereditary motor type IIA, 158590
  • distal myopathy
Green Green List (high evidence)
LDB3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Myopathy, myofibrillar 4, 609452
Green Green List (high evidence)
MATR3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Distal Myopathy
Green Green List (high evidence)
MYH7
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Laing distal myopathy, 160500
Green Green List (high evidence)
MYOT
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Myopathy, myofibrillar 3, 609200
Green Green List (high evidence)
NEB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Nemaline myopathy 2, 256030
Green Green List (high evidence)
SQSTM1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Dystal Myopathy with rimmed vacuoles, 617158
Green Green List (high evidence)
TIA1
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Welander distal myopathy, 604454
Green Green List (high evidence)
TTN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Tibial muscular dystrophy, tardive, 600334
Green Green List (high evidence)
VCP
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320
Red Red List (low evidence)
DMD
1 review
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
Red Red List (low evidence)
DMPK
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
Phenotypes
  • MYOTONIC DYSTROPHY 1 (DM1)
Red Red List (low evidence)
DUX4
1 review
Not set
Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
Phenotypes
  • FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A)
Red Red List (low evidence)
KLHL9
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • distal myopathy (no OMIM number)

1 STR

1 reviewed, 0 green

List STR Reviews Mode of inheritance Details
1 STRs
Red Red List (low evidence)
CNBP_CCTG
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Myotonic dystrophy 2 602668
Tags
  • STR

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