Description
This panel is used for clinical indication 'R79 Congenital muscular dystrophy' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R79 Congenital muscular dystrophy'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

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

8 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Emma Clement (Great Ormond Street Hospital)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rachael Mein (Viapath at Guy's Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Arianna Tucci (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

54 Entities

54 reviewed, 33 green

List Entity Reviews Mode of inheritance Details
54 Entitiess
Green Green List (high evidence)
B3GALNT2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11
  • congenital muscular dystrophies
Tags
Green Green List (high evidence)
B4GAT1
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287
Tags
Green Green List (high evidence)
CHKB
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital Muscular Dystrophy, CKHB-related
  • Muscular dystrophy, congenital, megaconial type, 602541
Tags
Green Green List (high evidence)
COL12A1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Ullrich congenital muscular dystrophy 2
  • Bethlem myopathy 2
Tags
Green Green List (high evidence)
COL6A1
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bethlem myopathy, 158810
  • Ullrich congenital muscular dystrophy, 254090
Tags
Green Green List (high evidence)
COL6A2
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bethlem myopathy, 158810
  • Ullrich congenital muscular dystrophy, 254090
Tags
Green Green List (high evidence)
COL6A3
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bethlem myopathy, 158810
  • Ullrich congenital muscular dystrophy, 254090
Tags
Green Green List (high evidence)
DAG1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • congenital muscular dystrophies
  • congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538
  • Walker-Warburg syndrome
Tags
Green Green List (high evidence)
DMD
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Duchenne muscular dystrophy, 310200
  • Becker muscular dystrophy, 300376
Tags
  • gene-therapy-trial
Green Green List (high evidence)
DMPK_CTG
STR
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Myotonic dystrophy 1 160900
Tags
  • STR
Green Green List (high evidence)
DOLK
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Congenital disorder of glycosylation, type Im
Tags
Green Green List (high evidence)
DPM2
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • musclular dystrophy dystroglycanopathy syndrome with severe epilepsy
  • Congenital disorder of glycosylation, type Iu 615042
Tags
Green Green List (high evidence)
FKRP
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
  • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Tags
Green Green List (high evidence)
FKTN
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fukuyama congenital muscular dystrophy
  • Fukuyama Congenital Muscular Dystrophy
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
  • structural-variant
Green Green List (high evidence)
GMPPB
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
Tags
Green Green List (high evidence)
INPP5K
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • London South GLH
  • NHS GMS
Phenotypes
  • Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy
  • Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
Tags
Green Green List (high evidence)
ISPD
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Walker-Warburg syndrome (WWS)
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
  • 614643
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
  • 616052
Tags
  • new-gene-name
Green Green List (high evidence)
ITGA7
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital Muscular Dystrophy, ITGA7-related
  • Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204
Tags
Green Green List (high evidence)
LAMA2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Muscular Dystrophy, LAMA2-related
  • Muscular dystrophy, congenital merosin-deficient, 607855
  • Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855
Tags
Green Green List (high evidence)
LARGE1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840
Tags
Green Green List (high evidence)
LMNA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Muscular Dystrophy, LMNA-related (Dominant)
  • Emery-Dreifuss muscular dystrophy 2, AD, 181350
Tags
Green Green List (high evidence)
MICU1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Myopathy with extrapyramidal signs, 615673
Tags
Green Green List (high evidence)
MSTO1
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Congenital muscular dystrophy with Brain involvment
  • Myopathy, mitochondrial, and ataxia, 617675
Tags
Green Green List (high evidence)
MYMK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Carey-Fineman-Ziter syndrome, 254940
Tags
Green Green List (high evidence)
POMGNT1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157
Tags
Green Green List (high evidence)
POMGNT2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type
  • Walker-Warburg syndrome
Tags
Green Green List (high evidence)
POMK
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
Tags
Green Green List (high evidence)
POMT1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
POMT2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
Tags
Green Green List (high evidence)
RYR1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • congenital muscular dystrophies
  • Central core disease
  • Minicore myopathy with external ophthalmoplegia
  • Neuromuscular disease, congenital, with uniform type 1 fiber
Tags
Green Green List (high evidence)
SELENON
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy, rigid spine, 1, 602771
Tags
Green Green List (high evidence)
SYNE1
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
  • complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8)
Tags
Green Green List (high evidence)
TMEM5
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ACTA1
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • CMD with rigid spine
  • Nemaline myopathy 3, autosomal dominant or recessive 161800
  • Myopathy, congenital, with fiber-type disproportion 1 255310
Tags
Amber Amber List (moderate evidence)
COL4A1
5 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • walker warburg syndrome, muscle eye brain disease
Tags
Amber Amber List (moderate evidence)
DPM1
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • congenital muscular dystrophies
  • Congenital disorder of glycosylation, type Ie 608799
Tags
Amber Amber List (moderate evidence)
DPM3
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • congenital muscular dystrophies
  • Congenital disorder of glycosylation, type Io 612937
Tags
Amber Amber List (moderate evidence)
DYSF
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2B, 253601
  • Myopathy, distal, with anterior tibial onset, 606768
  • Miyoshi muscular dystrophy 1, 254130
Tags
Amber Amber List (moderate evidence)
GOLGA2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • Secondary dystroglycanopathy
Tags
Amber Amber List (moderate evidence)
POGLUT1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • ?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232
Tags
  • watchlist
Amber Amber List (moderate evidence)
SIL1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • Marinesco-Sjogren syndrome, 248800
Tags
Amber Amber List (moderate evidence)
TCAP
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
Phenotypes
  • Congenital muscular dystrophies
Tags
Amber Amber List (moderate evidence)
TRAPPC11
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • London South GLH
  • NHS GMS
Phenotypes
  • congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract
  • infantile-onset muscle weakness
  • Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356
Tags
Red Red List (low evidence)
ANO5
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Gnathodiaphyseal dysplasia, 166260
  • Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319
  • Limb-Girdle Muscular Dystrophy, Recessive
Tags
Red Red List (low evidence)
BET1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • NHS GMS
Phenotypes
  • Congenital muscular dystrophy with epilepsy
Tags
Red Red List (low evidence)
COL4A2
4 reviews
2 red
Not set
Sources
  • Expert Review
  • Expert Review Red
  • London South GLH
  • NHS GMS
Tags
Red Red List (low evidence)
DUX4
2 reviews
1 red
Not set
Sources
  • UKGTN
Phenotypes
  • Facioscapulohumeral Muscular Dystrophy 1A
Tags
  • cnv
  • currently-ngs-unreportable
  • treatable
Red Red List (low evidence)
EMD
3 reviews
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
Tags
Red Red List (low evidence)
GOSR2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • NHS GMS
Phenotypes
  • Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan
Tags
Red Red List (low evidence)
PABPN1
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Oculopharyngeal muscular dystrophy, 164300
  • Oculopharyngeal muscular dystrophy
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
PLEC
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy with epidermolysis bullosa simplex, 226670
  • Muscular dystrophy, limb-girdle autosomal recessive 17, 613723
  • Epidermolysis bullosa simplex with muscular dystrophy, 226670
Tags
Red Red List (low evidence)
SMCHD1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fascioscapulohumeral muscular dystrophy 2, digenic, 158901
Tags
Red Red List (low evidence)
SYNE2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Emery-Dreifuss Muscular Dystrophy
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999
Tags
Red Red List (low evidence)
TMEM43
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Emery-Dreifuss muscular dystrophy 7, AD 614302
Tags

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