Description
This panel is a component of super panels 'Neuromuscular disorders' (panel id 465) and 'Hypotonic infant' (panel id 490); it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

The content of this panel (version 1.18: https://panelapp.genomicsengland.co.uk/api/v1/panels/235/?version=1.18) was signed off under NHS Genomic Medicine Service governance on (02/03/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

4 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arianna Tucci (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

31 Entities

31 reviewed, 24 green

List Entity Reviews Mode of inheritance Details
31 Entitiess
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
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 3, 161800
Tags
Green Green List (high evidence)
ANO5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Miyoshi muscular dystrophy 3, 613319
Tags
Green Green List (high evidence)
AR_CAG
STR
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 list
  • Expert Review Green
Phenotypes
  • Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Tags
  • STR
Green Green List (high evidence)
BAG3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • myofibrillar myopathy 6, 612954
Tags
Green Green List (high evidence)
CNBP
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
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
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Myopathy, myofibrillar 2, 608810
Tags
Green Green List (high evidence)
DES
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Myopathy, myofibrillar 1, 601419
Tags
Green Green List (high evidence)
DNAJB6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • limb-girdle muscular dystrophy type 1E, 603511
Tags
Green Green List (high evidence)
DNM2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Myopathy, centronuclear, 160150
Tags
Green Green List (high evidence)
DYSF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Miyoshi muscular dystrophy 1, 254130
Tags
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
Tags
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
Tags
Green Green List (high evidence)
GNE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Nonaka myopathy, 605820
Tags
Green Green List (high evidence)
HSPB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neuropathy, distal hereditary motor type IIB, 608634
Tags
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
Tags
Green Green List (high evidence)
LDB3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Myopathy, myofibrillar 4, 609452
Tags
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
Tags
Green Green List (high evidence)
MYH7
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Laing distal myopathy, 160500
Tags
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
Tags
Green Green List (high evidence)
NEB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 2, 256030
Tags
Green Green List (high evidence)
SQSTM1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Dystal Myopathy with rimmed vacuoles, 617158
Tags
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
Tags
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
Tags
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
Tags
Amber Amber List (moderate evidence)
ADSSL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Myopathy, distal, 5, 617030
Tags
Red Red List (low evidence)
CNBP_CCTG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Myotonic dystrophy 2 602668
Tags
  • NGS Not Validated
  • STR
Red Red List (low evidence)
DMD
1 review
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
Tags
  • Skewed X-inactivation
Red Red List (low evidence)
DMPK
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
Phenotypes
  • MYOTONIC DYSTROPHY 1 (DM1)
Tags
Red Red List (low evidence)
DUX4
1 review
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
Phenotypes
  • FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A)
Tags
Red Red List (low evidence)
KLHL9
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • distal myopathy (no OMIM number)
Tags
No list No list
GIPC1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Oculopharyngodistal myopathy-2 (OPDM2), MIM#618940
Tags

Major version comments

Downloads

Download lists

Download Version