Description
This panel is used for clinical indication 'R82 Limb girdle 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 'R82 Limb girdle 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.

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

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

10 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arianna Tucci (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Natalie Forrester (SWGLH - Bristol Genetics)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Chiara Marini Bettolo (NUTH)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ana Topf (John Walton Muscular Dystrophy Research Centre)

    Group: GeCIP domain
    Workplace: Research lab

  • Elizabeth Harris (Newcastle upon Tyne NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

84 Entities

84 reviewed, 32 green

List Entity Reviews Mode of inheritance Details
84 Entitiess
Green Green List (high evidence)
ANO5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
Phenotypes
  • Gnathodiaphyseal dysplasia, 166260
  • Muscular dystrophy, limb-girdle, type 2L, 611307
  • Miyoshi muscular dystrophy 3, 613319
  • Limb-girdle muscular dystrophy
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
CAPN3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2A, 253600
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
CAV3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Dominant
  • Muscular dystrophy, limb-girdle, type IC, 607801
  • Rippling muscle disease, 606072
  • Creatine phosphokinase, elevated serum, 123320
  • Myopathy, distal, Tateyama type, 614321
  • Cardiomyopathy, familial hypertrophic, 192600
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
COL6A1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bethlem myopathy 1 158810
Tags
Green Green List (high evidence)
COL6A2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bethlem myopathy 1 158810
Tags
Green Green List (high evidence)
COL6A3
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bethlem myopathy 1 158810
Tags
Green Green List (high evidence)
DMD
3 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Duchenne muscular dystrophy 310200
  • Becker muscular dystrophy 300376
Tags
  • gene-therapy-trial
Green Green List (high evidence)
DNAJB6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Dominant
  • Muscular dystrophy, limb-girdle, type 1E, 603511
Tags
Green Green List (high evidence)
DYSF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
EMD
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Tags
Green Green List (high evidence)
FHL1
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Emery-Dreifuss muscular dystrophy
Tags
Green Green List (high evidence)
FKRP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
FKTN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800
  • Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152
  • Cardiomyopathy, dilated, 1X, 611615
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
FLNC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Literature
Phenotypes
  • Myopathy, myofibrillar, 5 609524
Tags
Green Green List (high evidence)
GAA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glycogen storage disease II 232300
Tags
Green Green List (high evidence)
GMPPB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
LMNA
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Emery-Dreifuss muscular dystrophy 2, AD, 181350
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
MTM1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Myotubular myopathy, X-linked, 310400
Tags
Green Green List (high evidence)
MYOT
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Dominant
  • Muscular dystrophy, limb-girdle, type 1A, 159000
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
PLEC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy with epidermolysis bullosa simplex, 226670
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
POMGNT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
POMT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
POMT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
SGCA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2D, 608099
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
SGCB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy, limb-girdle, type 2E, 604286
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
SGCD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy, limb-girdle, type 2F, 601287
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
SGCG
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy, limb-girdle, type 2C, 253700
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
SYNE1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Tags
Green Green List (high evidence)
TCAP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy, limb-girdle, type 2G, 601954
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
TRAPPC11
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2S, 615356
Tags
Green Green List (high evidence)
TRIM32
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy, limb-girdle, type 2H, 254110
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
VCP
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
Tags
Amber Amber List (moderate evidence)
HNRNPDL
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • South West GLH
  • Yorkshire and North East GLH
Phenotypes
  • Muscular dystrophy, limb-girdle, type 1G 609115
  • Limb girdle muscular dystrophy
Tags
  • watchlist
Amber Amber List (moderate evidence)
POLG
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
Tags
Red Red List (low evidence)
ACADVL
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • VLCAD deficiency, 201475
  • metabolic myopathy
  • rhabdomyolsis
Tags
Red Red List (low evidence)
ACTA1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Myopathy, scapulohumeroperoneal, 616852
Tags
Red Red List (low evidence)
AGL
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Glycogen storage disease IIIb, 232400
  • Glycogen storage disease IIIc, 232400
Tags
Red Red List (low evidence)
ATP2A1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Brody myopathy, 601003
Tags
Red Red List (low evidence)
BAG3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Myopathy, myofibrillar, 6, 612954
Tags
Red Red List (low evidence)
BVES
5 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • South West GLH
  • Yorkshire and North East GLH
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2X, 616812
  • limb girdle muscular dystrophy
  • cardiac arrhythmia
Tags
Red Red List (low evidence)
CHRND
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Myasthenic syndrome, congenital, 3A, slow-channel, 616321
  • Congenital myasthenic syndrome
Tags
Red Red List (low evidence)
CLCN1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Myotonia congenita, dominant, 160800
Tags
Red Red List (low evidence)
COL12A1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Ullrich congenital muscular dystrophy 2, 616470
  • Bethlem myopathy
Tags
Red Red List (low evidence)
COLQ
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Myasthenic syndrome, congenital, 5, 603034
  • Congenital myasthenic syndrome
Tags
Red Red List (low evidence)
CPT2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • CPT II deficiency, infantile, 600649
  • metabolic myopathy
Tags
Red Red List (low evidence)
CRYAB
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Cataract 16, multiple types, 613763
  • myofibrillar myopathy
Tags
Red Red List (low evidence)
DAG1
6 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • Yorkshire and North East GLH
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
  • Limb girdle muscular dystrophy
  • congenital muscular dystrophy
  • Limb-girdle muscular dystrophy
Tags
Red Red List (low evidence)
DES
6 reviews
3 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • Yorkshire and North East GLH
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2R, 615325
  • myofibrillar myopathy
  • cardiomyopathy
  • limb girdle muscular dystrophy
Tags
Red Red List (low evidence)
DNM2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Centronuclear myopathy 1, 160150
  • Centronuclear myopathy
Tags
Red Red List (low evidence)
DOK7
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Fetal akinesia deformation sequence 1, 208150
  • Congenital myasthenic syndrome
  • Limb-girdle muscular dystrophy
Tags
Red Red List (low evidence)
DPM3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937
  • limb-girdle muscular dystrophy
  • dystroglycanopathy
Tags
Red Red List (low evidence)
DUX4
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • NHS GMS
  • South West GLH
Phenotypes
  • Facioscapulohumeral muscular dystrophy, 158900
Tags
Red Red List (low evidence)
ETFDH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Glutaric acidemia IIC, 231680
  • Glutaric acidemia IIA, 231680
  • Glutaric acidemia IIB, 231680
Tags
Red Red List (low evidence)
GBE1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Glycogen storage disease IV, 232500
Tags
Red Red List (low evidence)
GFPT1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates, 610542
  • Congenital myasthenic syndrome
Tags
Red Red List (low evidence)
GNE
5 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Nonaka myopathy, 605820
  • Distal myopathy
  • Limb girdle muscular dystrophy
  • Limb-girdle muscular dystrophy
  • quadriceps sparing myopathy
  • distal myopathy
  • Nonaka myopathy, HIBM
Tags
Red Red List (low evidence)
GYG1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Glycogen storage disease XV, 613507
Tags
Red Red List (low evidence)
ISPD
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • NHS GMS
  • South West GLH
  • Yorkshire and North East GLH
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052
  • congenital muscular dystrophy
  • limb girdle muscular dystrophy
Tags
  • new-gene-name
Red Red List (low evidence)
LAMA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855
  • congenital muscular dystroph
Tags
Red Red List (low evidence)
LAMP2
2 reviews
2 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
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Danon disease, 300257
Tags
Red Red List (low evidence)
LIMS2
5 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • South West GLH
  • Yorkshire and North East GLH
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2W, 616827
  • limb girdle muscular dystrophy
  • cardiomyopathy
  • triangular tongue
Tags
Red Red List (low evidence)
LPIN1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Myoglobinuria, acute recurrent, autosomal recessive, 268200
  • myoglobinuria
  • exercise induced myopathy
Tags
Red Red List (low evidence)
MATR3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Amyotrophic lateral sclerosis 21, 606070
  • ALS
  • myofibrillar myopathy
Tags
Red Red List (low evidence)
MYH14
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
Tags
Red Red List (low evidence)
MYH7
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Laing distal myopathy, 160500
  • cardiomyopathy
  • distal myopathy
Tags
Red Red List (low evidence)
NEB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Nemaline myopathy 2, autosomal recessive, 256030
  • congenital myopathy
Tags
Red Red List (low evidence)
PFKM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Glycogen storage disease VII, 232800
Tags
Red Red List (low evidence)
PGK1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Phosphoglycerate kinase 1 deficiency, 300653
Tags
Red Red List (low evidence)
PHKA1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Muscle glycogenosis, 300559
Tags
Red Red List (low evidence)
POGLUT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Limb-girdle muscular dystrophy
Tags
Red Red List (low evidence)
POMGNT2
6 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • Yorkshire and North East GLH
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830
  • limb girdle muscular dystrophy
Tags
Red Red List (low evidence)
POMK
6 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • Yorkshire and North East GLH
Phenotypes
  • ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249
  • limb girdle muscular dystrophy
  • congenital muscular dystrophy
Tags
Red Red List (low evidence)
PYGM
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • McArdle disease, 232600
Tags
Red Red List (low evidence)
RAPSN
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Fetal akinesia deformation sequence 1, 208150
  • Congenital myasthenic syndrome
  • Limb-girdle muscular dystrophy
Tags
Red Red List (low evidence)
RYR1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Neuromuscular disease, congenital, with uniform type 1 fiber, 117000
  • Central core disease, 117000
  • congenital myopathy
  • malignant hyperthermia
Tags
Red Red List (low evidence)
SCN4A
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Hyperkalemic periodic paralysis, type 2, 170500
  • Hyperkalemic periodic paralysis
Tags
Red Red List (low evidence)
SELENON
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Muscular dystrophy, rigid spine, 1, 602771
  • congenital myopathy
  • muscular dystophy
  • rigid spine syndrome
Tags
Red Red List (low evidence)
SMCHD1
5 reviews
2 green 1 red
Other - please specifiy in evaluation comments
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Fascioscapulohumeral muscular dystrophy 2, digenic 158901
  • fascioscapulohumeral muscular dystrophy
Tags
Red Red List (low evidence)
SYNE2
5 reviews
2 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • Yorkshire and North East GLH
Phenotypes
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999
  • congenital muscular dystrophy
Tags
Red Red List (low evidence)
TNNT3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Arthrogryposis, distal, type 2B, 601680
  • Arthrogryposis
Tags
Red Red List (low evidence)
TPM2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Arthrogryposis multiplex congenita, distal, type 1, 108120
Tags
Red Red List (low evidence)
TPM3
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • CAP myopathy 1, 609284
  • Nemaline myopathy 1, autosomal dominant or recessive, 609284
  • Nemaline myopathy
  • congenital myopathy
Tags
Red Red List (low evidence)
TTN
6 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • Yorkshire and North East GLH
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2J, 608807
  • Limb girdle muscular dystrophy
  • Distal myopathy
  • Myofibrillar myopathy
  • Congenital myopathy
  • dilated cardiomyopathy
  • HMERF
  • arthrogryposis
Tags
Red Red List (low evidence)
VMA21
2 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Myopathy, X-linked, with excessive autophagy, 310440
  • X-Linked myopathy with excessive autophagy
Tags

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