Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R381 Other rare neuromuscular disorders' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

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 'R381 Other rare neuromuscular disorders'.

This panel is a super panel composed of constituent panels: 'Congenital myopathy', 'Limb girdle muscular dystrophy', 'Congenital myaesthenic syndrome', 'Congenital muscular dystrophy', 'Rhabdomyolysis and metabolic muscle disorders', 'Paediatric motor neuronopathies', 'Distal myopathies' for the clinical indication 'R381 Other rare neuromuscular disorders'. 

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 is comprised of:
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/185/?version=4.0
- Congenital myopathy v4.0: 
https://panelapp.genomicsengland.co.uk/api/v1/panels/225/?version=4.0
- Congenital myaesthenic syndrome v4.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/232/?version=4.0
- Congenital muscular dystrophy v4.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/207/?version=4.0
- Rhabdomyolysis and metabolic muscle disorders v3.0:  https://panelapp.genomicsengland.co.uk/api/v1/panels/66/?version=3.0
- Paediatric motor neuronopathies v3.3: https://panelapp.genomicsengland.co.uk/api/v1/panels/79/?version=3.3
- Distal myopathies v3.0:
https://panelapp.genomicsengland.co.uk/api/v1/panels/235/?version=3.0

This panel is a super panel composed of the constituent panel(s) as defined in the link(s) above. 

Changes made to the constituent panel(s) will automatically be updated in the super panel. 

The constituent panels will continue to be curated based on external reviews and Genomics England curation. New changes to constituent panels will be reflected in an increase to the minor version of the panel and details of these can be viewed on each constituent panel '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.

One or more of the constituent panels of this super 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

473 Entities

473 reviewed, 294 green

List Entity Reviews Mode of inheritance Details
473 Entitiess
Green Green List (high evidence)
ACAD9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency due to ACAD9 deficiency 611126
Tags
Green Green List (high evidence)
ACADM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Rhabdomyolysis
  • Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
Tags
Green Green List (high evidence)
ACADVL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • VLCAD deficiency, OMIM:201475
Tags
Green Green List (high evidence)
ACADVL
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • VLCAD deficiency, 201475
  • metabolic myopathy
  • rhabdomyolsis
Tags
Green Green List (high evidence)
ACTA1
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • 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)
ACTA1
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • 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
  • NHS GMS
  • London South GLH
Phenotypes
  • Myopathy, congenital with structured cores and Z-line abnormalities, OMIM:618654
Tags
Green Green List (high evidence)
ADSSL1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myopathy, distal, 5, OMIM:617030
Tags
  • new-gene-name
Green Green List (high evidence)
ADSSL1
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Myopathy, distal, 5, OMIM:617030
Tags
  • new-gene-name
Green Green List (high evidence)
AGL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Glycogen storage disease IIIa 232400
  • Glycogen storage disease IIIb 232400
Tags
Green Green List (high evidence)
AGRN
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120
Tags
Green Green List (high evidence)
ALDOA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glycogen storage disease XII, OMIM:611881
Tags
Green Green List (high evidence)
ALG14
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
  • Eligibility statement prior genetic testing
Phenotypes
  • ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227
Tags
Green Green List (high evidence)
ALG2
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Myasthenic syndrome, congenital, 14, with tubular aggregates, OMIM:616228
Tags
Green Green List (high evidence)
AMPD1
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Rhabdomyolysis
  • Myopathy due to myoadenylate deaminase deficiency 615511
Tags
Green Green List (high evidence)
ANO5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Miyoshi muscular dystrophy 3 613319
  • Muscular dystrophy, limb-girdle, type 2L 611307
Tags
Green Green List (high evidence)
ANO5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
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)
ANO5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Miyoshi muscular dystrophy 3, 613319
Tags
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 Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Tags
  • STR
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 Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Tags
  • STR
Green Green List (high evidence)
AR_CAG
STR
3 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 Green
  • NHS GMS
  • Literature
Phenotypes
  • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Tags
  • STR
Green Green List (high evidence)
ASAH1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950
Tags
Green Green List (high evidence)
ASCC3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • congenital myopathy, MONDO:0019952
Tags
  • gene-checked
Green Green List (high evidence)
B3GALNT2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Emory Genetics Laboratory
  • 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
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • 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)
BAG3
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Myopathy, myofibrillar, 6, 612954
Tags
Green Green List (high evidence)
BAG3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • myofibrillar myopathy 6, 612954
Tags
Green Green List (high evidence)
BICD2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290
Tags
Green Green List (high evidence)
BIN1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • 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
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert Review
Phenotypes
  • Congenital myopathy, MONDO:0019952
Tags
Green Green List (high evidence)
CACNA1S
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Malignant hyperthermia susceptibility 5}, OMIM:601887
Tags
Green Green List (high evidence)
CAPN3
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600
  • Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129
Tags
  • Q2_23_MOI
Green Green List (high evidence)
CAV3
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Myopathy, distal, Tateyama type, OMIM:614321
  • Rippling muscle disease, OMIM:606072
Tags
Green Green List (high evidence)
CAV3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Rippling muscle disease 2, OMIM:606072
  • Myopathy, distal, Tateyama type, OMIM:614321
Tags
Green Green List (high evidence)
CAVIN1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Lipodystrophy, congenital generalized, type 4, OMIM:613327
Tags
Green Green List (high evidence)
CCDC78
7 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
  • Expert
  • 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
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nemaline myopathy 7, autosomal recessive, OMIM:610687
Tags
Green Green List (high evidence)
CHAT
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Myasthenic syndrome, congenital, 6, presynaptic, OMIM:254210
Tags
Green Green List (high evidence)
CHCHD10
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinal muscular atrophy, Jokela type, OMIM:615048
Tags
Green Green List (high evidence)
CHKB
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Muscular dystrophy, congenital, megaconial type, OMIM:602541
Tags
Green Green List (high evidence)
CHKB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Muscular dystrophy, congenital, megaconial type, OMIM:602541
Tags
Green Green List (high evidence)
CHRNA1
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myasthenic syndrome, congenital, 1A, slow-channel, OMIM:601462
  • Myasthenic syndrome, congenital, 1B, fast-channel, OMIM:608930
Tags
Green Green List (high evidence)
CHRNB1
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, OMIM:616314
  • Myasthenic syndrome, congenital, 2A, slow-channel, OMIM:616313
Tags
  • deletions
Green Green List (high evidence)
CHRND
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • ?Myasthenic syndrome, congenital, 3A, slow-channel, OMIM:616321
  • ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, OMIM:616323
  • Myasthenic syndrome, congenital, 3B, fast-channel, OMIM:616322
Tags
Green Green List (high evidence)
CHRNE
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809
  • Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
Tags
Green Green List (high evidence)
CHRNG
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • transient neonatal myasthenia gravis, MONDO:0018326
Tags
Green Green List (high evidence)
COL12A1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ullrich congenital muscular dystrophy 2
  • Bethlem myopathy 2
Tags
Green Green List (high evidence)
COL12A1
4 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • UCL
Phenotypes
  • EDS/myopathy overlap syndrome
Tags
Green Green List (high evidence)
COL13A1
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Literature
  • Eligibility statement prior genetic testing
Phenotypes
  • Myasthenic syndrome, congenital, 19, OMIM:616720
Tags
  • treatable
Green Green List (high evidence)
COL6A1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Bethlem myopathy 1, OMIM:158810
  • Ullrich congenital muscular dystrophy 1, OMIM:254090
Tags
Green Green List (high evidence)
COL6A1
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Bethlem myopathy 1, OMIM:158810
  • Ullrich congenital muscular dystrophy 1, OMIM:254090
Tags
Green Green List (high evidence)
COL6A1
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Bethlem myopathy 1, OMIM:158810
  • Ullrich congenital muscular dystrophy 1, OMIM:254090
Tags
Green Green List (high evidence)
COL6A2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Bethlem myopathy 1 158810
Tags
Green Green List (high evidence)
COL6A2
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Bethlem myopathy, 158810
  • Ullrich congenital muscular dystrophy, 254090
Tags
Green Green List (high evidence)
COL6A2
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
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
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Bethlem myopathy, OMIM:158810
  • Ullrich congenital muscular dystrophy, OMIM:254090
Tags
Green Green List (high evidence)
COL6A3
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Bethlem myopathy, OMIM:158810
  • Ullrich congenital muscular dystrophy, OMIM:254090
Tags
Green Green List (high evidence)
COL6A3
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Bethlem myopathy, OMIM:158810
  • Ullrich congenital muscular dystrophy, OMIM:254090
Tags
Green Green List (high evidence)
COLQ
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myasthenic syndrome, congenital, 5, OMIM:603034
Tags
  • treatable
Green Green List (high evidence)
COQ4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Tags
Green Green List (high evidence)
COQ8A
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Coenzyme Q10 deficiency, primary, 4, OMIM:612016
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)
CPT2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • CPT II deficiency, infantile, OMIM:600649
  • CPT II deficiency, lethal neonatal, OMIM:608836
Tags
Green Green List (high evidence)
CPT2
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • CPT II deficiency, myopathic, stress-induced, OMIM:255110
  • Exercise intolerance and rhabdomyolysis, late onset
Tags
Green Green List (high evidence)
CRYAB
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Myopathy, myofibrillar, 2, OMIM:608810
  • Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
Tags
Green Green List (high evidence)
CRYAB
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Myopathy, myofibrillar, 2, OMIM:608810
  • Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
Tags
Green Green List (high evidence)
DAG1
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Emory Genetics Laboratory
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)
DAG1
7 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
  • Limb girdle muscular dystrophy
  • congenital muscular dystrophy
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
DES
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Myopathy, myofibrillar 1, 601419
Tags
Green Green List (high evidence)
DES
7 reviews
3 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2R, 615325
  • myofibrillar myopathy
  • cardiomyopathy
  • limb girdle muscular dystrophy
Tags
Green Green List (high evidence)
DGUOK
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070
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
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Duchenne muscular dystrophy 310200
  • Becker muscular dystrophy 300376
Tags
  • gene-therapy-trial
  • Skewed X-inactivation
Green Green List (high evidence)
DMD
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
  • 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)
DMD
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Becker muscular dystrophy 300376
Tags
  • gene-therapy-trial
  • Skewed X-inactivation
Green Green List (high evidence)
DMPK_CTG
STR
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
  • STR
Green Green List (high evidence)
DMPK_CTG
STR
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
  • STR
Green Green List (high evidence)
DNAJB6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • limb-girdle muscular dystrophy type 1E, 603511
Tags
Green Green List (high evidence)
DNAJB6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Dominant
  • Muscular dystrophy, limb-girdle, type 1E, 603511
Tags
Green Green List (high evidence)
DNM2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Centronuclear myopathy 1, OMIM:160150
  • Lethal congenital contracture syndrome 5, OMIM:615368
Tags
  • missense
  • watchlist_moi
Green Green List (high evidence)
DNM2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Centronuclear myopathy 1, OMIM:160150
Tags
Green Green List (high evidence)
DOK7
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
Phenotypes
  • Fetal akinesia deformation sequence 3, OMIM:618389
  • Myasthenic syndrome, congenital, 10, OMIM:254300
Tags
Green Green List (high evidence)
DOK7
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Congenital myasthenic syndrome
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
DOK7
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Myasthenic syndrome, congenital, 10, OMIM:254300
Tags
  • treatable
Green Green List (high evidence)
DOLK
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert Review
Phenotypes
  • Congenital disorder of glycosylation, type Im, OMIM:610768
Tags
Green Green List (high evidence)
DPAGT1
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myasthenic syndrome, congenital, 13, with tubular aggregates, OMIM:614750
Tags
Green Green List (high evidence)
DPM2
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Iu, OMIM:615042
Tags
Green Green List (high evidence)
DYNC1H1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant 1, AD, OMIM:158600
Tags
Green Green List (high evidence)
DYSF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Miyoshi muscular dystrophy 1, 254130
Tags
Green Green List (high evidence)
DYSF
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
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
Green Green List (high evidence)
DYSF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
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)
ECEL1
6 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
  • Expert
Phenotypes
  • Arthrogryposis, distal, type 5D, OMIM:615065
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 Green
  • Expert Review
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Tags
Green Green List (high evidence)
ENO3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glycogen storage disease XIII, OMIM:612932
Tags
Green Green List (high evidence)
EPG5
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert Review
Phenotypes
  • Vici syndrome, OMIM:242840
Tags
Green Green List (high evidence)
ETFA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • UKGTN
Phenotypes
  • Glutaric acidemia IIA, OMIM:231680
  • multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Tags
Green Green List (high evidence)
ETFB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glutaric acidemia IIB, OMIM:231680
  • multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Tags
Green Green List (high evidence)
ETFDH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Glutaric acidemia IIC 231680
Tags
Green Green List (high evidence)
EXOSC3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pontocerebellar hypoplasia, type 1B, OMIM:614678
Tags
Green Green List (high evidence)
FDX2
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900
  • mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714
Tags
Green Green List (high evidence)
FHL1
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
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 Green
  • Expert Review
Phenotypes
  • Emery-Dreifuss muscular dystrophy
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
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, OMIM:300717
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)
FKRP
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
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)
FKRP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
FKRP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
Tags
Green Green List (high evidence)
FKTN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
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)
FKTN
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
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)
FLAD1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, OMIM:255100
Tags
Green Green List (high evidence)
FLNC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Myopathy, distal, 4, OMIM:614065
  • Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550
  • Myopathy, myofibrillar, 5, OMIM:609524
  • Myopathy, myofibrillar, 5, MONDO:0012289
Tags
Green Green List (high evidence)
FLNC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myopathy, distal, 4, OMIM:614065
  • Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550
  • Myopathy, myofibrillar, 5, OMIM:609524
  • Myopathy, myofibrillar, 5, MONDO:0012289
Tags
Green Green List (high evidence)
FXR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
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)
GAA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Glycogen storage disease II 232300
Tags
Green Green List (high evidence)
GAA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Glycogen storage disease II 232300
Tags
Green Green List (high evidence)
GBE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Glycogen storage disease IV, OMIM:232500
Tags
Green Green List (high evidence)
GFPT1
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542
Tags
Green Green List (high evidence)
GGPS1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
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
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • 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)
GMPPB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352
  • autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Tags
Green Green List (high evidence)
GMPPB
6 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352
  • autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Tags
Green Green List (high evidence)
GMPPB
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352
  • autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Tags
Green Green List (high evidence)
GNE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Nonaka myopathy, 605820
Tags
Green Green List (high evidence)
GNE
6 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Nonaka myopathy, 605820
  • Distal myopathy
  • Limb girdle muscular dystrophy
  • Limb-girdle muscular dystrophy
  • quadriceps sparing myopathy
  • distal myopathy
  • Nonaka myopathy, HIBM
Tags
Green Green List (high evidence)
GYG1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • UKGTN
Phenotypes
  • ?Glycogen storage disease XV 613507
  • Polyglucosan body myopathy 2 616199
Tags
Green Green List (high evidence)
GYS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Glycogen storage disease 0, muscle, OMIM:611556
Tags
Green Green List (high evidence)
HACD1
9 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
  • Expert Review
Phenotypes
  • Myopathy, congenital, nonprogressive, OMIM:619967
Tags
Green Green List (high evidence)
HADHA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mitochondrial trifunctional protein deficiency, OMIM:609015
Tags
Green Green List (high evidence)
HADHB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • UKGTN
Phenotypes
  • Mitochondrial trifunctional protein deficiency 2, OMIM:620300
Tags
Green Green List (high evidence)
HNRNPA2B1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • oculopharyngodistal myopathy
  • muscular dystrophy
  • congenital myopathy
Tags
Green Green List (high evidence)
HNRNPA2B1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Research
  • Expert list
  • Other
Phenotypes
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422
Tags
Green Green List (high evidence)
HNRNPDL
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, type 1G 609115
  • Limb girdle muscular dystrophy
Tags
Green Green List (high evidence)
HSPB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neuropathy, distal hereditary motor type IIB, 608634
Tags
Green Green List (high evidence)
HSPB8
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neuropathy, distal hereditary motor type IIA, 158590
  • distal myopathy
Tags
Green Green List (high evidence)
IGHMBP2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Neuronopathy, distal hereditary motor, type VI, OMIM:604320
Tags
Green Green List (high evidence)
INPP5K
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss
Region
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • microcephaly
  • 105833
  • Developmental delay, muscle weakness
  • Mental retardation
  • Angelman syndrome
  • 176270
  • Prader-Willi syndrome
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
  • Expert Review Green
  • ClinGen
Phenotypes
  • Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
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
  • Expert Review Green
  • ClinGen
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
  • Expert Review Green
  • ClinGen
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)
17q21.3 recurrent region (includes KANSL1) Loss
ISCA-37420-Loss
Region
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Koolen-De Vries syndrome, OMIM:610443
  • Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
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
  • Expert Review Green
  • ClinGen
Phenotypes
  • Wolf-Hirschhorn syndrome, OMIM:194190
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
  • Expert Review Green
  • ClinGen
Phenotypes
  • Wolf-Hirschhorn syndrome, OMIM:194190
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
ISCA-37478-Loss
Region
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • microcephaly
  • Developmental delay, muscle weakness
  • Mental retardation
  • Angelman syndrome
  • 176270
  • Prader-Willi syndrome
  • 105830
Tags
Green Green List (high evidence)
ISCU
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myopathy with lactic acidosis, hereditary 255125
Tags
  • for-review
  • non-coding-known-pathogenic
  • to_be_confirmed_NHSE
Green Green List (high evidence)
ISPD
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052
  • congenital muscular dystrophy
  • limb girdle muscular dystrophy
Tags
  • new-gene-name
Green Green List (high evidence)
ISPD
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
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
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
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
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566
Tags
Green Green List (high evidence)
KBTBD13
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • 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
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • 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
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nemaline myopathy 9, OMIM:615731
Tags
Green Green List (high evidence)
LAMA2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855
  • congenital muscular dystroph
Tags
Green Green List (high evidence)
LAMA2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Muscular dystrophy, congenital, merosin deficient or partially deficient, OMIM:607855
Tags
Green Green List (high evidence)
LAMP2
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 Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Danon disease 300257
Tags
Green Green List (high evidence)
LAMP2
3 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 Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Danon disease, 300257
Tags
Green Green List (high evidence)
LARGE1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
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)
LDB3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Myopathy, myofibrillar 4, 609452
Tags
Green Green List (high evidence)
LDHA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Glycogen storage disease XI 612933
Tags
Green Green List (high evidence)
LMNA
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Congenital Muscular Dystrophy, LMNA-related (Dominant)
  • Emery-Dreifuss muscular dystrophy 2, AD, 181350
Tags
Green Green List (high evidence)
LMNA
3 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital fiber type disproportion myopathy
Tags
Green Green List (high evidence)
LMNA
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Emery-Dreifuss muscular dystrophy 2, AD, 181350
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
LMOD3
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Literature
Phenotypes
  • Nemaline myopathy 10, OMIM:616165
Tags
Green Green List (high evidence)
LPIN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myoglobinuria, acute recurrent, autosomal recessive 268200
Tags
Green Green List (high evidence)
LPIN1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Myoglobinuria, acute recurrent, autosomal recessive, 268200
  • myoglobinuria
  • exercise induced myopathy
Tags
Green Green List (high evidence)
LRP4
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • ?Myasthenic syndrome, congenital, 17, OMIM:616304
Tags
Green Green List (high evidence)
MAP3K20
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • UCL
Phenotypes
  • Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760
Tags
Green Green List (high evidence)
MATR3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Distal Myopathy
Tags
Green Green List (high evidence)
MEGF10
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
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
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myopathy with extrapyramidal signs, 615673
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)
MLIP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138
Tags
Green Green List (high evidence)
MSTO1
4 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
Phenotypes
  • Myopathy, mitochondrial, and ataxia, OMIM:617675
Tags
  • Q1_24_MOI
Green Green List (high evidence)
MT-CO1
2 reviews
2 green
MITOCHONDRIAL
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Leber hereditary optic neuropathy, MONDO:0010788
  • myoglobinuria, MONDO:0000866
Tags
  • gene-checked
Green Green List (high evidence)
MT-CO2
2 reviews
2 green
MITOCHONDRIAL
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Cytochrome oxidase deficiency
  • rhabdomyolysis, MONDO:0005290
  • myoglobinuria, MONDO:0000866
Tags
  • gene-checked
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
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Myopathy, centronuclear, X-linked, OMIM:310400
Tags
Green Green List (high evidence)
MTM1
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
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Myopathy, centronuclear, X-linked, OMIM:310400
Tags
Green Green List (high evidence)
MUSK
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, OMIM:616325
Tags
  • deletions
Green Green List (high evidence)
MYBPC1
4 reviews
2 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
  • Expert
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 list
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • 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
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • 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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Laing distal myopathy, OMIM:160500
  • Laing early-onset distal myopathy, MONDO:0008050
  • Scapuloperoneal syndrome, myopathic type, OMIM:181430
  • MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409
Tags
Green Green List (high evidence)
MYH7
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • 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)
MYH7
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Laing distal myopathy, OMIM:160500
  • Myopathy, myosin storage, autosomal dominant, OMIM:608358
  • Myopathy, myosin storage, autosomal recessive, OMIM:255160
  • Scapuloperoneal syndrome, myopathic type, OMIM:181430
Tags
  • Q4_22_MOI
Green Green List (high evidence)
MYL1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
  • Expert Review
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
  • NHS GMS
  • Expert Review Green
  • Expert list
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
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Carey-Fineman-Ziter syndrome, OMIM:254940
Tags
Green Green List (high evidence)
MYO18B
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert Review
Phenotypes
  • Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549
Tags
Green Green List (high evidence)
MYO9A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198
  • Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597
Tags
Green Green List (high evidence)
MYOD1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975
Tags
Green Green List (high evidence)
MYOT
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myopathy, myofibrillar, 3, OMIM:609200
  • Myopathy, spheroid body, OMIM:182920
Tags
Green Green List (high evidence)
MYOT
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Myopathy, myofibrillar, 3, OMIM:609200
  • Myopathy, spheroid body, OMIM:182920
Tags
Green Green List (high evidence)
MYPN
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
  • UCL
Phenotypes
  • Nemaline myopathy 11, autosomal recessive, OMIM:617336
Tags
Green Green List (high evidence)
NEB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Nemaline myopathy 2, 256030
Tags
Green Green List (high evidence)
NEB
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Nemaline myopathy 2, autosomal recessive, OMIM:256030
Tags
  • watchlist_moi
Green Green List (high evidence)
OBSCN
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235
Tags
Green Green List (high evidence)
ORAI1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review
Phenotypes
  • Myopathy, tubular aggregate, 2, 615883
Tags
Green Green List (high evidence)
ORAI1
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • 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
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myopathy, congenital, progressive, with scoliosis, OMIM:618578
Tags
Green Green List (high evidence)
PFKM
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Glycogen storage disease VII, 232800
Tags
Green Green List (high evidence)
PFKM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glycogen storage disease VII 232800
Tags
Green Green List (high evidence)
PGAM2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glycogen storage disease X 261670
Tags
Green Green List (high evidence)
PGK1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Phosphoglycerate kinase 1 deficiency 300653
Tags
Green Green List (high evidence)
PGM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital disorder of glycosylation, type It 614921
Tags
Green Green List (high evidence)
PHKA1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Muscle glycogenosis 300559
Tags
Green Green List (high evidence)
PHKA1
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Muscle glycogenosis, 300559
Tags
Green Green List (high evidence)
PIEZO2
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
  • Expert Review
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)
PLEC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
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)
PLEC
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
  • 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)
PLEC
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Literature
Phenotypes
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
Tags
  • monogenic-polygenic
Green Green List (high evidence)
POLG
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640
  • Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450
Tags
Green Green List (high evidence)
POLG2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131
Tags
Green Green List (high evidence)
POMGNT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
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)
POMGNT1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
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
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830
Tags
Green Green List (high evidence)
POMGNT2
7 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830
  • limb girdle muscular dystrophy
Tags
Green Green List (high evidence)
POMK
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • 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
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • 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)
POMT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
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
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • 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)
POMT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
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)
PRKAG2
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomyopathy, hypertrophic 6 600858
  • Glycogen storage disease of heart, lethal congenital 261740
  • Wolff-Parkinson-White syndrome 194200
Tags
Green Green List (high evidence)
PYGM
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • McArdle disease, 232600
Tags
Green Green List (high evidence)
PYGM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Glycogen storage disease V McArdle disease 232600 AR
Tags
Green Green List (high evidence)
PYROXD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myopathy, myofibrillar, 8, OMIM:617258
Tags
Green Green List (high evidence)
RAPSN
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326
Tags
Green Green List (high evidence)
RBCK1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert Review
  • UKGTN
Phenotypes
  • Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
Tags
Green Green List (high evidence)
RRM2B
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 613077
Tags
Green Green List (high evidence)
RYR1
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • 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)
RYR1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Malignant hyperthermia susceptibility 1}, 145600
  • Central core disease, 117000
  • Minicore myopathy with external ophthalmoplegia, 255320
  • Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600
Tags
Green Green List (high evidence)
RYR1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Neuromuscular disease, congenital, with uniform type 1 fiber, 117000
  • Central core disease, 117000
  • congenital myopathy
  • malignant hyperthermia
Tags
Green Green List (high evidence)
RYR3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Congenital myopathy 20, OMIM:620310
  • Nemaline myopathy, MONDO:0018958
Tags
Green Green List (high evidence)
SCN4A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myasthenic syndrome, congenital, 16, OMIM:614198
Tags
Green Green List (high evidence)
SCN4A
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert Review
Phenotypes
  • Congenital myopathy, MONDO:0019952
Tags
Green Green List (high evidence)
SCN4A
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • SCN4A-related muscle disorders
Tags
Green Green List (high evidence)
SELENON
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Muscular dystrophy, rigid spine, 1, OMIM:602771
Tags
Green Green List (high evidence)
SELENON
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Muscular dystrophy, rigid spine, 1, 602771
Tags
Green Green List (high evidence)
SELENON
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy, rigid spine, 1, OMIM:602771
Tags
Green Green List (high evidence)
SGCA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2D, 608099
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
SGCA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099
Tags
Green Green List (high evidence)
SGCB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
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
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
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
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy, limb-girdle, type 2C, 253700
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
SIL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Marinesco-Sjogren syndrome 248800
Tags
Green Green List (high evidence)
SIL1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
Phenotypes
  • Marinesco-Sjogren syndrome, OMIM:248800
Tags
Green Green List (high evidence)
SLC18A3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239
Tags
Green Green List (high evidence)
SLC22A5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Carnitine deficiency, systemic primary, OMIM:212140
  • systemic primary carnitine deficiency disease, MONDO:0008919
Tags
Green Green List (high evidence)
SLC25A1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Myasthenic syndrome, congenital, 23, presynaptic, OMIM:618197
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)
SLC52A2
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867
  • Hereditary sensory and autonomic neuropathy, MONDO:0015364
Tags
  • treatable
Green Green List (high evidence)
SLC52A3
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 1, OMIM:211530
Tags
Green Green List (high evidence)
SLC5A7
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143
Tags
Green Green List (high evidence)
SMN1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Spinal muscular atrophy 1, OMIM:253300
  • Spinal muscular atrophy 2, OMIM:253550
  • Spinal muscular atrophy 3, OMIM:253400
  • Spinal muscular atrophy 4, OMIM:271150
Tags
  • cnv
  • gene-therapy-trial
Green Green List (high evidence)
SPEG
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Literature
Phenotypes
  • Centronuclear myopathy 5, OMIM:615959
Tags
Green Green List (high evidence)
SPG11
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
Tags
Green Green List (high evidence)
SQSTM1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Dystal Myopathy with rimmed vacuoles, 617158
Tags
Green Green List (high evidence)
STAC3
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • 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
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, tubular aggregate, 1, OMIM:160565
Tags
  • missense
Green Green List (high evidence)
STIM1
5 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review
Phenotypes
  • Myopathy, tubular aggregate, 1, 160565
Tags
Green Green List (high evidence)
SUCLA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
Tags
Green Green List (high evidence)
SYNE1
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant, OMIM:612998
  • Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484
Tags
Green Green List (high evidence)
SYNE1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Tags
Green Green List (high evidence)
SYNE2
8 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999
Tags
Green Green List (high evidence)
SYT2
6 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040
Tags
Green Green List (high evidence)
TANGO2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878
Tags
Green Green List (high evidence)
TCAP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy, limb-girdle, type 2G, 601954
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
TIA1
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Welander distal myopathy, 604454
Tags
Green Green List (high evidence)
TK2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Tags
Green Green List (high evidence)
TMEM5
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041
Tags
  • new-gene-name
Green Green List (high evidence)
TNNC2
7 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
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 Review Green
  • NHS GMS
  • London South GLH
  • Expert
  • UKGTN
Phenotypes
  • Arthrogryposis, distal, type 2B1, OMIM:601680
Tags
Green Green List (high evidence)
TNNT1
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
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 Review Green
  • NHS GMS
  • London South GLH
  • Expert
  • UKGTN
Phenotypes
  • Arthrogryposis, distal, type 2B2, OMIM:618435
Tags
Green Green List (high evidence)
TNPO3
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423
Tags
Green Green List (high evidence)
TOR1AIP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
  • Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900
Tags
Green Green List (high evidence)
TPM2
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
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
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
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)
TRAPPC11
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356
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
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy, limb-girdle, type 2H, 254110
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
TRIP4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
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)
TRIP4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866
  • Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209
  • Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806
Tags
Green Green List (high evidence)
TRPV4
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Distal Congenital Nonprogressive Spinal Muscular Atrophy
  • Brachyolmia type 3, OMIM:113500
Tags
Green Green List (high evidence)
TSFM
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Combined oxidative phosphorylation deficiency 3 610505
Tags
Green Green List (high evidence)
TTN
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Salih myopathy, OMIM:611705
Tags
Green Green List (high evidence)
TTN
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Tibial muscular dystrophy, tardive, 600334
Tags
Green Green List (high evidence)
TTN
8 reviews
3 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2J, 608807
  • Limb girdle muscular dystrophy
  • Distal myopathy
  • Myofibrillar myopathy
  • Congenital myopathy
  • dilated cardiomyopathy
  • HMERF
  • arthrogryposis
Tags
Green Green List (high evidence)
TYMP
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041
Tags
Green Green List (high evidence)
UBA1
3 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 Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830
Tags
Green Green List (high evidence)
VAMP1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 25, OMIM:618323
Tags
Green Green List (high evidence)
VCP
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320
Tags
Green Green List (high evidence)
VCP
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
Tags
Green Green List (high evidence)
VMA21
4 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myopathy, X-linked, with excessive autophagy, OMIM:310440
Tags
Green Green List (high evidence)
VMA21
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Myopathy, X-linked, with excessive autophagy, 310440
  • X-Linked myopathy with excessive autophagy
Tags
Green Green List (high evidence)
VRK1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Pontocerebellar hypoplasia type 1A, OMIM:607596
Tags
Amber Amber List (moderate evidence)
ABHD5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Chanarin-Dorfman syndrome, OMIM:275630
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
ABHD5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Chanarin-Dorfman syndrome, OMIM:275630
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
ACTA1
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
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)
ACTN2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myopathy, distal, 6, adult onset, OMIM:618655
Tags
  • Q2_23_promote_green
  • watchlist_moi
Amber Amber List (moderate evidence)
ALS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100
  • Spastic paralysis, infantile onset ascending, OMIM:607225
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)
ATP7A
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Menkes disease, OMIM:309400
  • Occipital horn syndrome, OMIM:304150
  • Spinal muscular atrophy, distal, X-linked 3, OMIM:300489
Tags
Amber Amber List (moderate evidence)
BET1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • London South GLH
Phenotypes
  • Congenital muscular dystrophy, MONDO:0019950
Tags
  • Q1_23_NHS_review
  • Q4_22_promote_green
Amber Amber List (moderate evidence)
BVES
8 reviews
3 green 3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2X, 616812
  • limb girdle muscular dystrophy
  • cardiac arrhythmia
Tags
  • Q2_23_promote_green
Amber Amber List (moderate evidence)
CASQ1
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review
Phenotypes
  • Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231
Tags
  • Q2_23_promote_green
Amber Amber List (moderate evidence)
CNBP_CCTG
STR
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert list
Phenotypes
  • Myotonic dystrophy 2, OMIM:602668
  • Myotonic dystrophy type 2, MONDO:0011266
Tags
  • Q1_24_promote_green
  • STR
Amber Amber List (moderate evidence)
CNTN1
6 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Amber
  • 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 Review Amber
  • Research
  • Expert Review
  • Literature
  • Expert list
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)
COL4A1
7 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • London South GLH
  • Expert Review
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)
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)
DPM1
7 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Amber
  • Emory Genetics Laboratory
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
  • Expert Review Amber
  • NHS GMS
  • London South GLH
  • Emory Genetics Laboratory
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)
DPM3
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937
  • DPM3-congenital disorder of glycosylation, MONDO:0013049
  • ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992
  • muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15, MONDO:0033556
Tags
  • Q4_22_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
  • Expert Review Amber
  • Emory Genetics Laboratory
  • 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)
EXOSC8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • UKGTN
Phenotypes
  • Pontocerebellar hypoplasia, type 1C, OMIM:616081
  • neuronopathy, distal hereditary motor, MONDO:0000075
Tags
Amber Amber List (moderate evidence)
FLNC
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review
  • Expert Review Amber
  • 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 Amber
  • Expert Review
  • 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)
GOLGA2
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • London South GLH
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
  • NHS GMS
  • London South GLH
Phenotypes
  • Muscular dystrophy, congenital, with or without seizures, OMIM:620166
Tags
  • Q1_23_NHS_review
  • Q4_22_promote_green
Amber Amber List (moderate evidence)
HMGCR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert Review
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 28, OMIM:620375
Tags
  • Q3_23_MOI
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
HSPB1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert
Phenotypes
  • Neuropathy, distal hereditary motor, type IIB, OMIM:608634
  • Charcot-Marie-Tooth disease, axonal, type 2F, OMIM:606595
Tags
Amber Amber List (moderate evidence)
HSPB8
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert
Phenotypes
  • Neuropathy, distal hereditary motor, type IIA, OMIM:158590
Tags
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
  • NHS GMS
  • London South GLH
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Danon disease, OMIM:300257
Tags
Amber Amber List (moderate evidence)
LETM1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
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)
LRIF1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Facioscapulohumeral muscular dystrophy
Tags
Amber Amber List (moderate evidence)
LRIF1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Facioscapulohumeral muscular dystrophy
Tags
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
  • NHS GMS
  • London South GLH
  • Expert Review Amber
  • Expert Review
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
  • NHS GMS
  • London South GLH
  • Expert Review Amber
  • Expert Review
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 Review Amber
  • Literature
  • Expert list
Phenotypes
  • Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155
Tags
Amber Amber List (moderate evidence)
MYH1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • rhabdomyolysis, MONDO:0005290
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)
PNPLA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Neutral lipid storage disease with myopathy, OMIM:610717
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
PNPLA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Neutral lipid storage disease with myopathy, OMIM:610717
Tags
  • Q2_23_promote_green
Amber Amber List (moderate evidence)
POGLUT1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • London South GLH
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)
POGLUT1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert list
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232
  • autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977
Tags
  • Q1_23_promote_green
Amber Amber List (moderate evidence)
POPDC3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848
  • muscular dystrophy, limb-girdle, autosomal recessive 26, MONDO:0030014
Tags
  • Q1_24_NHS_review
  • Q1_24_promote_green
Amber Amber List (moderate evidence)
PPA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Sudden cardiac failure, infantile, OMIM:617222
Tags
Amber Amber List (moderate evidence)
PYROXD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Myopathy, myofibrillar, 8, 617258
  • adult-onset limb girdle muscular dystrophy
Tags
  • Q2_23_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)
REEP1
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Neuronopathy, distal hereditary motor, type VB, OMIM:614751
Tags
Amber Amber List (moderate evidence)
SETX
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
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)
SMCHD1
7 reviews
3 green 1 red
Other - please specifiy in evaluation comments
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fascioscapulohumeral muscular dystrophy 2, digenic 158901
  • fascioscapulohumeral muscular dystrophy
Tags
  • digenic
Amber Amber List (moderate evidence)
SMPX
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myopathy, distal, 7, adult-onset, X-linked, OMIM:301075
  • myopathy, distal, 7, adult-onset, X-linked, MONDO:0024771
Tags
  • Q3_23_MOI
  • Q3_23_promote_green
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)
TAMM41
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 56, OMIM:620139
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
TCAP
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954
Tags
Amber Amber List (moderate evidence)
TOR1AIP1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
  • Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900
Tags
  • Q4_22_promote_green
Amber Amber List (moderate evidence)
TRDN
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert list
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)
VAPB
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980
  • Amyotrophic lateral sclerosis 8, OMIM:608627
Tags
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
  • NHS GMS
  • London South GLH
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)
AARS
4 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Expert
Tags
  • new-gene-name
Red Red List (low evidence)
ACTA1
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Myopathy, scapulohumeroperoneal, 616852
Tags
Red Red List (low evidence)
AGL
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Glycogen storage disease IIIb, 232400
  • Glycogen storage disease IIIc, 232400
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)
AR
7 reviews
2 green 1 red
Other
Sources
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATP2A1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Brody myopathy, OMIM:601003
Tags
Red Red List (low evidence)
ATP2A1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Brody myopathy, 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)
BSCL2
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Tags
Red Red List (low evidence)
CACNA1A
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Lambert-Eaton myasthenic syndrome, MONDO:0018556
Tags
Red Red List (low evidence)
CASQ1
6 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • London South GLH
  • 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)
CHRND
3 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Myasthenic syndrome, congenital, 3A, slow-channel, 616321
  • Congenital myasthenic syndrome
Tags
Red Red List (low evidence)
CLCN1
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Myotonia congenita, dominant, 160800
Tags
Red Red List (low evidence)
CNBP
3 reviews
1 green 1 red
Other
Sources
  • NHS GMS
  • Expert Review Red
  • Expert Review
Phenotypes
  • Myotonic dystrophy 2, OMIM:602668
  • Myotonic dystrophy type 2, MONDO:0011266
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
COL12A1
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Ullrich congenital muscular dystrophy 2, 616470
  • Bethlem myopathy
Tags
Red Red List (low evidence)
COL4A2
4 reviews
2 red
Unknown
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Red
  • Expert Review
Tags
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)
COLQ
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Myasthenic syndrome, congenital, 5, 603034
  • Congenital myasthenic syndrome
Tags
Red Red List (low evidence)
CPT1B
1 review
Not set
Sources
  • UKGTN
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)
CYP2C8
2 reviews
1 green
Unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Drug metabolism, altered, CYP2C8-related}, OMIM:618018
  • Rhabdomyolysis, cerivastatin-induced
Tags
  • pharmacogenetics
Red Red List (low evidence)
DCTN1
1 review
Not set
Sources
  • Expert Review Red
  • Expert
Tags
Red Red List (low evidence)
DES
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
  • Emory Genetics Laboratory
Phenotypes
  • Myopathy, myofibrillar, 1, OMIM:601419
  • Scapuloperoneal syndrome, neurogenic, Kaeser type, OMIM:181400
Tags
Red Red List (low evidence)
DMD
1 review
Not set
Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
Tags
  • Skewed X-inactivation
Red Red List (low evidence)
DMPK
3 reviews
1 red
Other
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
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)
DMPK
2 reviews
1 green
Other
Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
DMPK_CTG
STR
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
  • Expert list
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
  • STR
Red Red List (low evidence)
DNAJB2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinal muscular atrophy, distal, autosomal recessive, 5, 614881
Tags
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)
DNM2
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Centronuclear myopathy 1, 160150
  • Centronuclear myopathy
Tags
Red Red List (low evidence)
DUX4
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
  • Expert Review
Phenotypes
  • Facioscapulohumeral muscular dystrophy, 158900
Tags
Red Red List (low evidence)
DUX4
1 review
Not set
Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
Phenotypes
  • FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A)
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)
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)
ETFDH
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Glutaric acidemia IIC, 231680
  • Glutaric acidemia IIA, 231680
  • Glutaric acidemia IIB, 231680
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)
FBP2
2 reviews
2 red
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
FBXO38
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuronopathy, distal hereditary motor, type IID 615575
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
  • NHS GMS
  • Expert Review Red
  • Expert Review
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)
FKTN
4 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fukuyama congenital muscular dystrophy
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
Tags
Red Red List (low evidence)
GARS
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Distal Spinal Muscular Atrophy
Tags
  • new-gene-name
Red Red List (low evidence)
GBE1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Glycogen storage disease IV, OMIM:232500
Tags
Red Red List (low evidence)
GFPT1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates, 610542
  • Congenital myasthenic syndrome
Tags
Red Red List (low evidence)
GIPC1
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Oculopharyngodistal myopathy 2, OMIM:618940
  • oculopharyngodistal myopathy 2, MONDO:0030134
Tags
  • STR
Red Red List (low evidence)
GNE
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonaka myopathy, OMIM:605820
Tags
Red Red List (low evidence)
GYG1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Glycogen storage disease XV, 613507
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)
HSPB3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • ?Neuronopathy, distal hereditary motor, type IIC 613376
Tags
Red Red List (low evidence)
HTRA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Literature
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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • distal myopathy (no OMIM number)
Tags
Red Red List (low evidence)
KLHL9
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London South GLH
Phenotypes
  • Early onset distal myopathy
  • Nemaline myopathy
Tags
Red Red List (low evidence)
LAMA5
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • myopia, facial tics, and failure of neuromuscular transmission
Tags
Red Red List (low evidence)
LAMB2
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Literature
Phenotypes
  • Congenital myasthenic syndrome
  • congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations
  • synaptic congenital myasthenic syndrome
Tags
Red Red List (low evidence)
LDB3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myopathy, myofibrillar, 4, OMIM:609452
Tags
Red Red List (low evidence)
LGI4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Literature
  • Other
Phenotypes
  • Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468
Tags
Red Red List (low evidence)
LIMS2
6 reviews
1 green 3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2W, 616827
  • limb girdle muscular dystrophy
  • cardiomyopathy
  • triangular tongue
Tags
Red Red List (low evidence)
MATR3
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Amyotrophic lateral sclerosis 21, 606070
  • ALS
  • myofibrillar myopathy
Tags
Red Red List (low evidence)
MATR3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Amyotrophic lateral sclerosis 21, OMIM:606070
Tags
  • adult-onset
Red Red List (low evidence)
MEG3
2 reviews
Not set
Sources
  • Expert Review Red
Tags
  • locus-type-rna-long-non-coding
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
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Centronuclear Myopathy, Dominant
Tags
Red Red List (low evidence)
MYH14
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
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 Review Red
  • NHS GMS
  • London South GLH
  • Expert
  • UKGTN
Phenotypes
  • Trismus-pseudocamptodactyly syndrome, OMIM:158300
Tags
Red Red List (low evidence)
MYMK
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Literature
Phenotypes
  • Carey-Fineman-Ziter syndrome, OMIM:254940
  • Carey-Fineman-Ziter syndrome, MONDO:0009700
Tags
Red Red List (low evidence)
MYOT
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myopathy, myofibrillar, 3, OMIM:609200
  • Myopathy, spheroid body, OMIM:182920
Tags
Red Red List (low evidence)
NEB
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Nemaline myopathy 2, autosomal recessive, 256030
  • congenital myopathy
Tags
Red Red List (low evidence)
PABPN1
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Oculopharyngeal muscular dystrophy, OMIM:164300
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
PGK1
3 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Phosphoglycerate kinase 1 deficiency, 300653
Tags
Red Red List (low evidence)
PHKB
3 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
Tags
Red Red List (low evidence)
PHKG1
2 reviews
2 red
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
PLEKHG5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Distal Spinal Muscular Atrophy
  • Spinal muscular atrophy, distal, autosomal recessive, 4, 611067
Tags
Red Red List (low evidence)
PNPLA2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Neutral lipid storage disease with myopathy, OMIM:610717
Tags
Red Red List (low evidence)
POLG
4 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
Tags
Red Red List (low evidence)
POMK
7 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094
  • limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101
Tags
Red Red List (low evidence)
PREPL
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Literature
Phenotypes
  • myasthenic syndrome
  • congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency
  • ?Myasthenic syndrome, congenital, 22, 616224
Tags
  • deletions
  • polygenic
  • treatable
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)
RAPSN
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Fetal akinesia deformation sequence 1, 208150
  • Congenital myasthenic syndrome
  • Limb-girdle muscular dystrophy
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)
RYR1
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
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)
RYR1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • RYR1-related congenital myopathy
Tags
Red Red List (low evidence)
SCN4A
3 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Hyperkalemic periodic paralysis, type 2, 170500
  • Hyperkalemic periodic paralysis
Tags
Red Red List (low evidence)
SIGMAR1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • ?Amyotrophic lateral sclerosis 16, juvenile 614373
Tags
Red Red List (low evidence)
SLC22A12
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Hypouricemia, renal 220150
Tags
Red Red List (low evidence)
SLC2A9
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Hypouricemia, renal, 2 612076
  • {Uric acid concentration, serum, QTL 2} 612076
Tags
Red Red List (low evidence)
SLC52A1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
SLC5A7
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • UKGTN
Phenotypes
  • Neuronopathy, distal hereditary motor, type VIIA 158580
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)
SMN1
6 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review
Phenotypes
  • Spinal muscular atrophy-4, 271150
Tags
Red Red List (low evidence)
SNAP25
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Other
  • Literature
Phenotypes
  • ?Myasthenic syndrome, congenital, 18, 616330
Tags
Red Red List (low evidence)
SNRPN
4 reviews
1 red
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Prader-Willi syndrome, OMIM:176270
Tags
  • currently-ngs-unreportable
Red Red List (low evidence)
SRPK3
3 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • London South GLH
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)
SYNE2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999
Tags
Red Red List (low evidence)
SYT15
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Tags
Red Red List (low evidence)
SYT2
2 reviews
Not set
Sources
  • Expert Review Red
  • Expert
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)
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
Red Red List (low evidence)
TNNT3
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Arthrogryposis, distal, type 2B2, OMIM:618435
  • Arthrogryposis, distal, type 2B2, MONDO:0032750
Tags
Red Red List (low evidence)
TPM2
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Arthrogryposis multiplex congenita, distal, type 1, 108120
Tags
Red Red List (low evidence)
TPM3
3 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • CAP myopathy 1, 609284
  • Nemaline myopathy 1, autosomal dominant or recessive, 609284
  • Nemaline myopathy
  • congenital myopathy
Tags
Red Red List (low evidence)
TSEN54
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia type 2A, OMIM:277470
Tags
Red Red List (low evidence)
UBQLN1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Brown-Vialetto-Van Laere syndrome/ atypical motor neurone disease
Tags
Red Red List (low evidence)
UNC13A
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
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 Red
  • NHS GMS
  • London South GLH
  • Expert Review
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
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anemia 2, OMIM:613561
Tags

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