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'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

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 signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your 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

16 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

  • Anna Sarkozy (Great Ormond Street Hospital)

    Group: Other NHS organisation
    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

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Dmitrijs Rots (Children's Clinical University Hospital)

    Group: Other
    Workplace: Research lab

  • Gavin Ryan (West Midlands Regional Genetics Laboratory)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Hannah Knight (NIHR BioResource - University of Cambridge)

    Group: Other
    Workplace: Research lab

61 Entities

61 reviewed, 39 green

List Entity Reviews Mode of inheritance Details
61 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, type A, 11, OMIM:615181
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), type A, 13, OMIM:615287
Tags
Green Green List (high evidence)
CAVIN1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lipodystrophy, congenital generalized, type 4, OMIM:613327
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
  • Muscular dystrophy, congenital, megaconial type, OMIM: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 1, OMIM:158810
  • Ullrich congenital muscular dystrophy 1, OMIM: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, OMIM:158810
  • Ullrich congenital muscular dystrophy, OMIM:254090
Tags
Green Green List (high evidence)
DAG1
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, OMIM:616538
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818
Tags
  • watchlist_moi
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
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Becker muscular dystrophy, OMIM:300376
  • Duchenne muscular dystrophy, OMIM:310200
Tags
  • gene-therapy-trial
  • Skewed X-inactivation
Green Green List (high evidence)
DMPK_CTG
STR
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Myotonic dystrophy 1, OMIM: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, OMIM:610768
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
  • Congenital disorder of glycosylation, type Iu, OMIM:615042
Tags
Green Green List (high evidence)
FHL1
2 reviews
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
  • NHS GMS
Phenotypes
  • Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, OMIM:300717
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, OMIM:613153
  • Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5, OMIM:606612
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
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800
  • Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4, OMIM:613152
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, OMIM:611588
Tags
  • structural-variant
Green Green List (high evidence)
GGPS1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518
Tags
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, OMIM:615350
  • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14, OMIM:615351
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, OMIM:615352
Tags
Green Green List (high evidence)
HNRNPA2B1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Other
  • Research
Phenotypes
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422
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
  • Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404
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
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, OMIM:614643
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
  • Muscular dystrophy, congenital, due to ITGA7 deficiency, OMIM:613204
Tags
Green Green List (high evidence)
JAG2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566
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
  • Muscular dystrophy, congenital, merosin deficient or partially deficient, OMIM: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
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154
  • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, OMIM:608840
Tags
Green Green List (high evidence)
LMNA
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • 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
4 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Myopathy, mitochondrial, and ataxia, OMIM:617675
Tags
  • Q1_24_MOI
Green Green List (high evidence)
PLEC
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
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, OMIM:253280
  • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3, OMIM:613151
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 A, 8, OMIM:614830
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, OMIM:615249
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 A, 1, OMIM:236670
  • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1, OMIM:613155
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, OMIM:609308
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, OMIM:613150
  • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, OMIM:613156
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)
SIL1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Marinesco-Sjogren syndrome, OMIM:248800
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
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant, OMIM:612998
  • Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484
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 A, 10, OMIM:615041
Tags
  • new-gene-name
Green Green List (high evidence)
TRAPPC11
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • London South GLH
  • NHS GMS
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356
Tags
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)
BET1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • Congenital muscular dystrophy, MONDO:0019950
Tags
  • Q1_23_NHS_review
  • Q4_22_promote_green
Amber Amber List (moderate evidence)
COL4A1
7 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773
  • autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, MONDO:0012726
Tags
  • Q3_23_NHS_review
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
DPM1
7 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • Congenital disorder of glycosylation, type Ie, OMIM:608799
Tags
  • watchlist
Amber Amber List (moderate evidence)
DPM3
9 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937
  • ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992
Tags
  • Q1_23_NHS_review
  • Q1_23_promote_green
Amber Amber List (moderate evidence)
DTNA
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • muscular dystrophy, MONDO:0020121
Tags
  • Q1_23_NHS_review
  • Q1_23_promote_green
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
  • Miyoshi muscular dystrophy 1, OMIM:254130
  • Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601
  • Myopathy, distal, with anterior tibial onset, OMIM:606768
Tags
Amber Amber List (moderate evidence)
EMD
6 reviews
2 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked, OMIM:310300
Tags
  • Q2_23_expert_review
  • Q2_23_NHS_review
  • Q2_23_promote_green
Amber Amber List (moderate evidence)
GOLGA2
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • Developmental delay with hypotonia, myopathy, and brain abnormalities, OMIM:620240
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
GOSR2
6 reviews
4 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • Muscular dystrophy, congenital, with or without seizures, OMIM:620166
Tags
  • Q1_23_NHS_review
  • Q4_22_promote_green
Amber Amber List (moderate evidence)
POGLUT1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232
  • autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977
Tags
  • Q4_22_NHS_review
  • Q4_22_promote_green
Amber Amber List (moderate evidence)
PYROXD1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • muscular dystrophy
Tags
  • Q2_23_NHS_review
  • Q2_23_promote_green
Amber Amber List (moderate evidence)
TCAP
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954
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
  • Miyoshi muscular dystrophy 3, OMIM:613319
  • Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307
Tags
Red Red List (low evidence)
COL4A2
4 reviews
2 red
Unknown
Sources
  • Expert Review
  • Expert Review Red
  • London South GLH
  • NHS GMS
Tags
Red Red List (low evidence)
DUX4
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
Phenotypes
  • Facioscapulohumeral Muscular Dystrophy 1A
Tags
  • cnv
  • currently-ngs-unreportable
  • treatable
Red Red List (low evidence)
MYMK
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Carey-Fineman-Ziter syndrome, OMIM:254940
  • Carey-Fineman-Ziter syndrome, MONDO:0009700
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, OMIM:164300
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
RYR1
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • congenital muscular dystrophies
  • Central core disease
  • Minicore myopathy with external ophthalmoplegia
  • Neuromuscular disease, congenital, with uniform type 1 fiber
Tags
Red Red List (low evidence)
SMCHD1
2 reviews
1 red
Other
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM: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 5, autosomal dominant, OMIM: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, OMIM:614302
Tags

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