Description
This panel is used for clinical indication 'R81 Congenital myopathy' 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 'R81 Congenital myopathy'.

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.

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

Relevant diseases:
- Congenital myopathy

17 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Tracy Lester (Genetics laboratory, Oxford UK)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Carl Fratter (Oxford University Hospitals NHS Trust)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • 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

  • Helen Brittain (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

  • Rhiannon Mellis (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Dmitrijs Rots (Children's Clinical University Hospital)

    Group: Other
    Workplace: Research lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

129 Entities

129 reviewed, 67 green

List Entity Reviews Mode of inheritance Details
129 Entitiess
Green Green List (high evidence)
ACTA1
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myopathy, actin, congenital, with cores, OMIM:161800
  • Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800
  • Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310
  • Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
Tags
Green Green List (high evidence)
ACTN2
6 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Myopathy, congenital with structured cores and Z-line abnormalities, OMIM:618654
Tags
Green Green List (high evidence)
ADSSL1
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Myopathy, distal, 5, OMIM:617030
Tags
  • new-gene-name
Green Green List (high evidence)
AR_CAG
STR
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 list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Tags
  • STR
Green Green List (high evidence)
ASCC3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • congenital myopathy, MONDO:0019952
Tags
  • gene-checked
Green Green List (high evidence)
BIN1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Centronuclear myopathy 2, OMIM:255200
Tags
  • watchlist_moi
Green Green List (high evidence)
CACNA1S
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Congenital myopathy, MONDO:0019952
Tags
Green Green List (high evidence)
CCDC78
7 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, centronuclear, 4, OMIM:614807
Tags
  • Q4_22_demote_amber
  • Q4_22_expert_review
Green Green List (high evidence)
CFL2
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nemaline myopathy 7, autosomal recessive, OMIM:610687
Tags
Green Green List (high evidence)
COL12A1
4 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • UCL
Phenotypes
  • EDS/myopathy overlap syndrome
Tags
Green Green List (high evidence)
COL6A1
4 reviews
3 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
3 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)
COL6A3
4 reviews
3 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)
COX6A2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
Tags
Green Green List (high evidence)
DMPK_CTG
STR
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
  • STR
Green Green List (high evidence)
DNM2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Centronuclear myopathy 1, OMIM:160150
  • Lethal congenital contracture syndrome 5, OMIM:615368
Tags
  • missense
  • watchlist_moi
Green Green List (high evidence)
DOK7
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Fetal akinesia deformation sequence 3, OMIM:618389
  • Myasthenic syndrome, congenital, 10, OMIM:254300
Tags
Green Green List (high evidence)
ECEL1
6 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Arthrogryposis, distal, type 5D, OMIM:615065
Tags
Green Green List (high evidence)
EPG5
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Vici syndrome, OMIM:242840
Tags
Green Green List (high evidence)
FKBP14
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557
Tags
Green Green List (high evidence)
FXR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Myopathy, congenital proximal, with minicore lesions, OMIM:618823
  • Myopathy, congenital, with respiratory insufficiency and bone fractures, OMIM:618822
Tags
Green Green List (high evidence)
HACD1
9 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Myopathy, congenital, nonprogressive, OMIM:619967
Tags
Green Green List (high evidence)
HNRNPA2B1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • oculopharyngodistal myopathy
  • muscular dystrophy
  • congenital myopathy
Tags
Green Green List (high evidence)
2p15p16.1 region (includes BCL11A) Loss
ISCA-37408-Loss
Region
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
Tags
Green Green List (high evidence)
17q21.3 recurrent region (includes KANSL1) Loss
ISCA-37420-Loss
Region
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Koolen-De Vries syndrome, OMIM:610443
  • Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural features
Tags
Green Green List (high evidence)
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
ISCA-37429-Loss
Region
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Wolf-Hirschhorn syndrome, OMIM:194190
Tags
Green Green List (high evidence)
KBTBD13
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nemaline myopathy 6, autosomal dominant, OMIM:609273
Tags
  • missense
Green Green List (high evidence)
KLHL40
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nemaline myopathy 8, autosomal recessive, OMIM:615348
Tags
Green Green List (high evidence)
KLHL41
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nemaline myopathy 9, OMIM:615731
Tags
Green Green List (high evidence)
LMNA
3 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital fiber type disproportion myopathy
Tags
Green Green List (high evidence)
LMOD3
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • London South GLH
  • NHS GMS
Phenotypes
  • Nemaline myopathy 10, OMIM:616165
Tags
Green Green List (high evidence)
MAP3K20
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • UCL
Phenotypes
  • Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760
Tags
Green Green List (high evidence)
MEGF10
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, OMIM:614399
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, OMIM:614399
Tags
Green Green List (high evidence)
MICU1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy with extrapyramidal signs, OMIM:615673
Tags
Green Green List (high evidence)
MTM1
6 reviews
3 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myopathy, centronuclear, X-linked, OMIM:310400
Tags
Green Green List (high evidence)
MYBPC1
4 reviews
2 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Arthrogryposis, distal, type 1B, OMIM:614335
  • Lethal congenital contracture syndrome 4, OMIM:614915
  • Myopathy, congenital, with tremor, OMIM:618524
Tags
Green Green List (high evidence)
MYH2
6 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Proximal myopathy and ophthalmoplegia, OMIM:605637
Tags
Green Green List (high evidence)
MYH3
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • UKGTN
Phenotypes
  • Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700
  • Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436
  • Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110
  • Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469
Tags
  • Q2_23_MOI
  • Q2_23_NHS_review
Green Green List (high evidence)
MYH7
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Laing distal myopathy, OMIM:160500
  • Myopathy, myosin storage, autosomal dominant, OMIM:608358
  • Myopathy, myosin storage, autosomal recessive, OMIM:255160
Tags
  • Q2_23_NHS_review
  • Q4_22_MOI
Green Green List (high evidence)
MYL1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414
Tags
Green Green List (high evidence)
MYL2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424
Tags
Green Green List (high evidence)
MYMK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Carey-Fineman-Ziter syndrome, OMIM:254940
Tags
Green Green List (high evidence)
MYO18B
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549
Tags
Green Green List (high evidence)
MYOD1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975
Tags
Green Green List (high evidence)
MYPN
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • UCL
Phenotypes
  • Nemaline myopathy 11, autosomal recessive, OMIM:617336
Tags
Green Green List (high evidence)
NEB
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nemaline myopathy 2, autosomal recessive, OMIM:256030
Tags
  • watchlist_moi
Green Green List (high evidence)
ORAI1
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • UKGTN
Phenotypes
  • Myopathy, tubular aggregate, 2, OMIM:615883
Tags
  • missense
Green Green List (high evidence)
PAX7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Myopathy, congenital, progressive, with scoliosis, OMIM:618578
Tags
Green Green List (high evidence)
PIEZO2
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Arthrogryposis, distal, type 3, OMIM:114300: Arthrogryposis, distal, type 5, OMIM:108145: Arthrogryposis, distal, with proprioception and touch, OMIM:617146
Tags
Green Green List (high evidence)
PYROXD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Myopathy, myofibrillar, 8, OMIM:617258
Tags
Green Green List (high evidence)
RYR1
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Central core disease, OMIM:117000
  • Neuromuscular disease, congenital, with uniform type 1 fiber, OMIM:117000
  • Minicore myopathy with external ophthalmoplegia, OMIM:255320
  • King-Denborough syndrome, OMIM:619542
Tags
  • pharmacogenetics
  • treatable
Green Green List (high evidence)
RYR3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital myopathy 20, OMIM:620310
  • Nemaline myopathy, MONDO:0018958
Tags
Green Green List (high evidence)
SCN4A
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Congenital myopathy, MONDO:0019952
Tags
Green Green List (high evidence)
SELENON
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy, rigid spine, 1, OMIM:602771
Tags
Green Green List (high evidence)
SLC25A4
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184
Tags
Green Green List (high evidence)
SPEG
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • London South GLH
  • NHS GMS
Phenotypes
  • Centronuclear myopathy 5, OMIM:615959
Tags
Green Green List (high evidence)
STAC3
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, congenital, Baily-Bloch, OMIM:255995
Tags
Green Green List (high evidence)
STIM1
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myopathy, tubular aggregate, 1, OMIM:160565
Tags
  • missense
Green Green List (high evidence)
TNNC2
7 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Myopathy, congenital, with neonatal respiratory insufficiency, OMIM:620161
Tags
Green Green List (high evidence)
TNNI2
6 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • UKGTN
Phenotypes
  • Arthrogryposis, distal, type 2B1, OMIM:601680
Tags
Green Green List (high evidence)
TNNT1
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nemaline myopathy 5, Amish type, OMIM:605355
Tags
  • Q2_23_MOI
  • Q2_23_NHS_review
Green Green List (high evidence)
TNNT3
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • UKGTN
Phenotypes
  • Arthrogryposis, distal, type 2B2, OMIM:618435
Tags
Green Green List (high evidence)
TPM2
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • CAP myopathy 2, OMIM:609285
  • Nemaline myopathy 4, autosomal dominant, OMIM:609285
Tags
  • Q2_23_MOI
  • Q2_23_NHS_review
  • watchlist_moi
Green Green List (high evidence)
TPM3
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • CAP myopathy 1, OMIM:609284
  • Myopathy, congenital, with fiber-type disproportion, OMIM:255310
  • Nemaline myopathy 1, autosomal dominant or recessive, OMIM:609284
Tags
Green Green List (high evidence)
TRIP4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066
  • Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866
Tags
Green Green List (high evidence)
TTN
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Salih myopathy, OMIM:611705
Tags
Green Green List (high evidence)
VMA21
4 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Myopathy, X-linked, with excessive autophagy, OMIM:310440
Tags
Amber Amber List (moderate evidence)
ASCC1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spinal muscular atrophy with congenital bone fractures 2, OMIM:616867
Tags
  • Q1_23_NHS_review
  • Q1_23_promote_green
Amber Amber List (moderate evidence)
CNTN1
6 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, congenital, Compton-North, OMIM:612540
Tags
  • watchlist
Amber Amber List (moderate evidence)
COL13A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 19, OMIM:616720
Tags
  • Q1_23_NHS_review
  • Q1_23_promote_green
  • treatable
Amber Amber List (moderate evidence)
COL25A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Amber
  • Literature
  • Research
Phenotypes
  • Arthrogryposis multiplex congenita with or without ocular congenital cranial dysinnervation disorder
Tags
  • Q1_23_NHS_review
  • Q1_23_promote_green
Amber Amber List (moderate evidence)
DHX16
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733
Tags
Amber Amber List (moderate evidence)
DNAJB4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • congenital myopathy with early respiratory failure
Tags
  • Q1_23_NHS_review
  • Q1_23_promote_green
Amber Amber List (moderate evidence)
FLNC
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Amber
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, distal, 4, OMIM:614065
  • Myopathy, myofibrillar, 5, OMIM:609524
Tags
Amber Amber List (moderate evidence)
GBE1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • arthrogryposis multiplex congenita
  • foetal akinesias
  • fetal akinesia deformation sequence
  • severe congenital myopathy
  • multiple pterygium syndrome
Tags
  • Q1_23_NHS_review
  • Q1_23_promote_green
Amber Amber List (moderate evidence)
GFER
5 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076
Tags
  • to_be_confirmed_NHSE
Amber Amber List (moderate evidence)
KY
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UCL
Phenotypes
  • Myopathy, myofibrillar, 7, OMIM:617114
Tags
  • Q1_23_NHS_review
  • Q1_23_promote_green
Amber Amber List (moderate evidence)
LAMP2
4 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
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • Danon disease, OMIM:300257
Tags
Amber Amber List (moderate evidence)
LETM1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Tags
  • Q3_23_MOI
  • Q3_23_NHS_review
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
MLIP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, OMIM:620138
Tags
  • Q4_22_promote_green
Amber Amber List (moderate evidence)
MTMR14
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • {Centronuclear myopathy, autosomal, modifier of}, OMIM:160150
Tags
  • watchlist
Amber Amber List (moderate evidence)
MYBPC3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • Cardiomyopathy, dilated, 1MM, OMIM:615396
  • Cardiomyopathy, hypertrophic, 4, OMIM:115197
Tags
  • watchlist
Amber Amber List (moderate evidence)
MYF5
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Literature
Phenotypes
  • Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155
Tags
Amber Amber List (moderate evidence)
NEFL
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UCL
Phenotypes
  • Nemaline Myopathy
Tags
  • watchlist
Amber Amber List (moderate evidence)
PPA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Sudden cardiac failure, infantile, OMIM:617222
Tags
Amber Amber List (moderate evidence)
SLC25A42
5 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416
Tags
  • watchlist
Amber Amber List (moderate evidence)
SPTBN4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519
Tags
  • Q1_23_promote_green
Amber Amber List (moderate evidence)
SVIL
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myofibrillar myopathy 10, OMIM:619040
Tags
  • watchlist
Amber Amber List (moderate evidence)
TRDN
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, OMIM:615441
Tags
  • Q2_23_NHS_review
  • Q2_23_promote_green
Amber Amber List (moderate evidence)
UNC45B
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myofibrillar myopathy 11, OMIM:619178
Tags
  • Q4_22_expert_review
  • Q4_22_NHS_review
  • Q4_22_promote_green
Amber Amber List (moderate evidence)
VWA1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216
  • neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977
Tags
  • Q1_24_expert_review
  • Q1_24_promote_green
Amber Amber List (moderate evidence)
ZC4H2
4 reviews
3 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 Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • Wieacker-Wolff syndrome, OMIM:314580
  • Wieacker-Wolff syndrome, female-restricted, OMIM:301041
Tags
  • Q2_23_NHS_review
  • Q2_23_promote_green
Red Red List (low evidence)
ATP2A1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Brody myopathy, OMIM:601003
Tags
Red Red List (low evidence)
BAG3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, myofibrillar, 6, OMIM:612954
Tags
Red Red List (low evidence)
CASQ1
6 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • UCL
Phenotypes
  • Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231
Tags
Red Red List (low evidence)
CAV3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, distal, Tateyama type, OMIM:614321
Tags
Red Red List (low evidence)
CHCHD10
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, OMIM:615911
  • Spinal muscular atrophy, Jokela type, OMIM:615048
Tags
  • adult-onset
Red Red List (low evidence)
COL9A3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969
Tags
Red Red List (low evidence)
CPT2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • CPT II deficiency, infantile, OMIM:600649
  • CPT II deficiency, lethal neonatal, OMIM:608836
Tags
Red Red List (low evidence)
CRYAB
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, myofibrillar, 2, OMIM:608810
  • Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
Tags
Red Red List (low evidence)
DES
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, myofibrillar, 1, OMIM:601419
  • Scapuloperoneal syndrome, neurogenic, Kaeser type, OMIM:181400
Tags
Red Red List (low evidence)
DMPK
4 reviews
1 green 2 red
Other
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
DNAJB6
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal dominant 1, OMIM:603511
Tags
Red Red List (low evidence)
DYSF
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Miyoshi muscular dystrophy 1 254130
  • Muscular dystrophy, limb-girdle, type 2B 253601
  • Myopathy, distal, with anterior tibial onset 606768
Tags
Red Red List (low evidence)
FAM111B
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, OMIM:615704
Tags
Red Red List (low 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
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717
  • Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
Tags
Red Red List (low evidence)
GNE
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nonaka myopathy, OMIM:605820
Tags
Red Red List (low evidence)
HNRNPA1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424
Tags
Red Red List (low evidence)
HRAS
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Costello syndrome, OMIM:218040
  • Congenital myopathy with excess of muscle spindles, OMIM:218040
Tags
Red Red List (low evidence)
HTRA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • 3-methylglutaconic aciduria, type VIII, OMIM:617248
Tags
Red Red List (low evidence)
ISCU
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy with lactic acidosis, hereditary, OMIM:255125
Tags
Red Red List (low evidence)
KLHL9
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South GLH
  • NHS GMS
Phenotypes
  • Early onset distal myopathy
  • Nemaline myopathy
Tags
Red Red List (low evidence)
LDB3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, myofibrillar, 4, OMIM:609452
Tags
Red Red List (low evidence)
LGI4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • Other
Phenotypes
  • Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468
Tags
Red Red List (low evidence)
MATR3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Amyotrophic lateral sclerosis 21, OMIM:606070
Tags
  • adult-onset
Red Red List (low evidence)
MT-TL1
2 reviews
2 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • MELAS syndrome, MONDO:0010789
Tags
Red Red List (low evidence)
MYF6
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
  • Centronuclear Myopathy, Dominant
Tags
Red Red List (low evidence)
MYH14
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, OMIM:614369
Tags
Red Red List (low evidence)
MYH8
7 reviews
2 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • UKGTN
Phenotypes
  • Trismus-pseudocamptodactyly syndrome, OMIM:158300
Tags
Red Red List (low evidence)
MYOT
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, myofibrillar, 3, OMIM:609200
  • Myopathy, spheroid body, OMIM:182920
Tags
Red Red List (low evidence)
PNPLA2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutral lipid storage disease with myopathy, OMIM:610717
Tags
Red Red List (low evidence)
PUS1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anemia 1, OMIM:600462
Tags
Red Red List (low evidence)
RBCK1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
Tags
Red Red List (low evidence)
SRPK3
3 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London South GLH
  • NHS GMS
Phenotypes
  • Nemaline myopathy, MONDO:0018958
Tags
Red Red List (low evidence)
STIM2
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
TIA1
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Welander distal myopathy, OMIM:604454
Tags
Red Red List (low evidence)
VCP
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, OMIM:167320
Tags
  • adult-onset
Red Red List (low evidence)
VPS33B
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • London South GLH
  • NHS GMS
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085
Tags
Red Red List (low evidence)
YARS2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anemia 2, OMIM:613561
Tags

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