Description
Limb girdle muscular dystrophy inclusion criteria (29567)
- Unexplained predominantly proximal muscle weakness, onset at any age.
- Acquired myopathies excluded by relevant clinical investigations.
- Serum creatine kinase (CK) assessment.
- Muscle Biopsy with immunohistochemistry (IH) performed.
- Dried blood spot test for Pompe disease performed.
- Muscle MRI (optional).
- Review of patient data by LGMD NHS Highly Specialised Services for Rare Diseases service

Limb girdle muscular dystrophy exclusion criteria (29567)
- Phenotypes suggestive of FSHD, DM1 or DM2.

Prior genetic testing guidance (29567)
- 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.

Limb girdle muscular dystrophy prior genetic testing genes (29567)
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, LMNA, ANO5, CAPN3 and FKRP by sequencing.
 - Exclusion by genetic testing of any gene indicated by IH.

Closing statement (29567)
These requirements will be kept under continual review during the main programme and may be subject to change.

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Arianna Tucci (Genomics England Curator)

    Group: Other
    Workplace: Other

44 genes

44 reviewed, 31 green

List Gene Reviews Mode of inheritance Details
44 genes
Green Green List (high evidence)
ANO5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Gnathodiaphyseal dysplasia, 166260Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319
  • Limb-girdle muscular dystrophy
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Limb-girdle muscular dystrophy
Green Green List (high evidence)
CAPN3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2A, 253600
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Limb-girdle muscular dystrophy
Green Green List (high evidence)
CAV3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Dominant
  • Muscular dystrophy, limb-girdle, type IC, 607801
  • Rippling muscle disease, 606072
  • Creatine phosphokinase, elevated serum, 123320
  • Myopathy, distal, Tateyama type, 614321
  • Cardiomyopathy, familial hypertrophic, 192600
  • Limb-girdle muscular dystrophy
Green Green List (high evidence)
COL6A1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Bethlem myopathy 1 158810
Green Green List (high evidence)
COL6A2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Bethlem myopathy 1 158810
Green Green List (high evidence)
COL6A3
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Bethlem myopathy 1 158810
Green Green List (high evidence)
DMD
3 reviews
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 Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Duchenne muscular dystrophy 310200
  • Becker muscular dystrophy 300376
Tags
  • gene-therapy-trial
Green Green List (high evidence)
DNAJB6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Dominant
  • Muscular dystrophy, limb-girdle, type 1E, 603511
Green Green List (high evidence)
DYSF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Limb-girdle muscular dystrophy
Green Green List (high evidence)
EMD
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Green Green List (high evidence)
FHL1
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Emery-Dreifuss muscular dystrophy
Green Green List (high evidence)
FKRP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Limb-girdle muscular dystrophy
Green Green List (high evidence)
FKTN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800
  • Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152
  • Cardiomyopathy, dilated, 1X, 611615
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588
  • Limb-girdle muscular dystrophy
Green Green List (high evidence)
FLNC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Myopathy, myofibrillar, 5 609524
Green Green List (high evidence)
GAA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Glycogen storage disease II 232300
Green Green List (high evidence)
GMPPB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Green Green List (high evidence)
LMNA
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Emery-Dreifuss muscular dystrophy 2, AD, 181350
  • Limb-girdle muscular dystrophy
Green Green List (high evidence)
MYOT
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Dominant
  • Muscular dystrophy, limb-girdle, type 1A, 159000
  • Limb-girdle muscular dystrophy
Green Green List (high evidence)
PLEC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy with epidermolysis bullosa simplex, 226670
  • Limb-girdle muscular dystrophy
Green Green List (high evidence)
POMGNT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Limb-girdle muscular dystrophy
Green Green List (high evidence)
POMT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Limb-girdle muscular dystrophy
Green Green List (high evidence)
POMT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Limb-girdle muscular dystrophy
Green Green List (high evidence)
SGCA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2D, 608099
  • Limb-girdle muscular dystrophy
Green Green List (high evidence)
SGCB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy, limb-girdle, type 2E, 604286
  • Limb-girdle muscular dystrophy
Green Green List (high evidence)
SGCD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy, limb-girdle, type 2F, 601287
  • Limb-girdle muscular dystrophy
Green Green List (high evidence)
SGCG
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy, limb-girdle, type 2C, 253700
  • Limb-girdle muscular dystrophy
Green Green List (high evidence)
SYNE1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Green Green List (high evidence)
TCAP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy, limb-girdle, type 2G, 601954
  • Limb-girdle muscular dystrophy
Green Green List (high evidence)
TRAPPC11
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2S, 615356
Green Green List (high evidence)
TRIM32
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy, limb-girdle, type 2H, 254110
  • Limb-girdle muscular dystrophy
Green Green List (high evidence)
VCP
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
Amber Amber List (moderate evidence)
HNRNPDL
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, type 1G 609115
Red Red List (low evidence)
BVES
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2X 616812
Red Red List (low evidence)
DAG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
Red Red List (low evidence)
DES
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2R 615325
Red Red List (low evidence)
DUX4
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
Phenotypes
  • Facioscapulohumeral muscular dystrophy, 158900
Red Red List (low evidence)
GNE
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Nonaka myopathy 605820
Red Red List (low evidence)
ISPD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052
Red Red List (low evidence)
LIMS2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2W 616827
Red Red List (low evidence)
POMGNT2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830
Red Red List (low evidence)
POMK
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249
Red Red List (low evidence)
SMCHD1
1 review
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Fascioscapulohumeral muscular dystrophy 2, digenic 158901
Red Red List (low evidence)
SYNE2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999
Red Red List (low evidence)
TTN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2J 608807

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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