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'. 

The content of this panel (Version 5.43) https://panelapp.genomicsengland.co.uk/api/v1/panels/465/?version=5.43 was signed off under NHS Genomic Medicine Service governance on (04/03/2020). 
This is comprised of:
Limb girdle muscular dystrophy v2.4 https://panelapp.genomicsengland.co.uk/panels/185/
Congenital myopathy v2.2 https://panelapp.genomicsengland.co.uk/panels/225/
Congenital myaesthenic syndrome v2.2 https://panelapp.genomicsengland.co.uk/panels/232/
Congenital muscular dystrophy v2.4 https://panelapp.genomicsengland.co.uk/panels/207/
Rhabdomyolysis and metabolic muscle disorders v1.34  https://panelapp.genomicsengland.co.uk/panels/66/
Paediatric motor neuronopathies v1.30 https://panelapp.genomicsengland.co.uk/panels/79/
Distal myopathies v1.18
https://panelapp.genomicsengland.co.uk/panels/235/

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 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

428 Entities

420 reviewed, 274 green

List Entity Reviews Mode of inheritance Details
428 Entitiess
Green Green List (high evidence)
ACAD9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Literature
  • Emory Genetics Laboratory
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
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Rhabdomyolysis
  • Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
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)
ACADVL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • VLCAD deficiency 201475
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, 161800
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
  • Myopathy, actin, congenital, with excess of thin myofilaments
  • Myopathy, congenital, with fiber-type disproportion 1
  • Nemaline myopathy 3
Tags
Green Green List (high evidence)
ACTN2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
Phenotypes
  • Multiple structured Core Disease
  • progressive early-onset muscle weakness
Tags
Green Green List (high evidence)
ADSSL1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Myopathy, distal, 5, 617030
Tags
Green Green List (high evidence)
AGL
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 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
  • Congenital myasthenic syndrome
  • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120
Tags
Green Green List (high evidence)
ALDOA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Glycogen storage disease XII 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
  • Congenital myasthenic syndrome
  • ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
Tags
Green Green List (high evidence)
ALG2
4 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
  • Congenital myasthenic syndromes
  • Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228
  • Congenital disorder of glycosylation CDG type Ii, 607906
Tags
Green Green List (high evidence)
ANO5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • 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
4 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Green Green List (high evidence)
AR_CAG
STR
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 list
Phenotypes
  • Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Tags
  • STR
Green Green List (high evidence)
AR_CAG
STR
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 list
Phenotypes
  • Spinal and bulbar muscular atrophy or Kennedy diseases 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, 159950
Tags
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 typeA 11
  • congenital muscular dystrophies
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), typeA, 13, 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
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, 2, AD, 615290 -3
Tags
Green Green List (high evidence)
BIN1
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
  • UKGTN
Phenotypes
  • Centronuclear Myopathy, Recessive
  • Myopathy, centronuclear, autosomal recessive, 255200
Tags
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
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}, 601887
Tags
Green Green List (high evidence)
CAPN3
1 review
1 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, type 2A, 253600
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
CAV3
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Muscular dystrophy, limb-girdle, type IC 607801
  • Myopathy, distal, Tateyama type 614321
  • Rippling muscle disease 606072
Tags
Green Green List (high evidence)
CAV3
1 review
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
  • Limb-Girdle Muscular Dystrophy, Dominant
  • Muscular dystrophy, limb-girdle, type IC, 607801
  • Rippling muscle disease, 606072
  • Creatine phosphokinase, elevated serum, 123320
  • Myopathy, distal, Tateyama type, 614321
  • Cardiomyopathy, familial hypertrophic, 192600
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
CCDC78
5 reviews
2 green 1 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, 614807
Tags
Green Green List (high evidence)
CFL2
4 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, 610687
  • Nemaline Myopathy, Recessive
Tags
Green Green List (high evidence)
CHAT
4 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, 254210
  • Congenital myasthenics sndrome associated with episodic apnea
  • CMS-EA
Tags
Green Green List (high evidence)
CHCHD10
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinal muscular atrophy, Jokela type 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
  • Congenital Muscular Dystrophy, CKHB-related
  • Muscular dystrophy, congenital, megaconial type, 602541
Tags
Green Green List (high evidence)
CHRNA1
4 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
  • Congenital Myasthenic Syndrome, Dominant/Recessive
  • Myasthenic syndrome, congenital, 1A, slow-channel, 601462
  • Myasthenic syndrome, congenital, 1B, fast-channel, 608930
  • Slow channel myasthenic syndrome
  • fast channel myasthenic syndrome
  • Acetylcholine receptor deficiency syndrome
Tags
Green Green List (high evidence)
CHRNB1
4 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, 616314
  • Myasthenic syndrome, congenital, 2A, slow-channel, 616313
  • Slow channel myasthenic syndrome
  • fast channel myasthenic syndrome
  • Acetylcholine receptor deficiency syndrome
  • Myasthenic syndrome, slow-channel congenital, 601462
  • Congenital Myasthenic Syndrome, Dominant/Recessive
Tags
  • deletions
Green Green List (high evidence)
CHRND
4 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
  • Congenital Myasthenic Syndrome, Dominant/Recessive
  • Myasthenic syndrome, slow-channel congenital, 601462
  • Slow channel myasthenic syndrome
  • fast channel myasthenic syndrome
  • Acetylcholine receptor deficiency syndrome
  • ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321
  • ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323
  • Myasthenic syndrome, congenital, 3B, fast-channel, 616322
Tags
Green Green List (high evidence)
CHRNE
4 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
  • Congenital Myasthenic Syndrome, Dominant/Recessive
  • Myasthenic syndrome, slow-channel congenital, 601462
  • Myasthenic syndrome, congenital, 4A, slow-channel, 605809
  • Myasthenic syndrome, congenital, 4B, fast-channel, 616324
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931
  • Slow channel myasthenic syndrome
  • fast channel myasthenic syndrome
  • Acetylcholine receptor deficiency syndrome
  • Reduced channel conductance syndrome
Tags
Green Green List (high evidence)
CHRNG
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
  • Myasthenia gravis, neonatal transient
  • Neonatal congenital myasthenia
  • escobar syndrome
  • fetal akinesia deformation sequence syndrome/FADS
  • multiple pterygium syndrome/MPS
Tags
Green Green List (high evidence)
CNBP
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myotonic dystrophy 2, 602668
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
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)
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)
COL13A1
4 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
  • Congenital myasthenic syndrome type 19
  • Myasthenic syndrome, congenital, 19, 616720
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, 158810
  • Ullrich congenital muscular dystrophy, 254090
Tags
Green Green List (high evidence)
COL6A1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Bethlem myopathy 1 158810
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, 158810
  • Ullrich congenital muscular dystrophy, 254090
Tags
Green Green List (high evidence)
COL6A2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Bethlem myopathy 1 158810
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, 158810
  • Ullrich congenital muscular dystrophy, 254090
Tags
Green Green List (high evidence)
COL6A2
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • 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)
COL6A3
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Bethlem myopathy 1 158810
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, 158810
  • Ullrich congenital muscular dystrophy, 254090
Tags
Green Green List (high evidence)
COL6A3
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • 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)
COLQ
4 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
  • Congenital Myasthenic Syndrome, Recessive
  • Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency
  • Myasthenic syndrome, congenital, 5, 603034
Tags
  • treatable
Green Green List (high evidence)
CPT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110
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, 600649
  • metabolic myopathy
Tags
Green Green List (high evidence)
CRYAB
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Myopathy, myofibrillar 2, 608810
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
  • Cataract 16, multiple types, 613763
  • myofibrillar myopathy
Tags
Green Green List (high evidence)
DAG1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • congenital muscular dystrophies
  • congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538
  • Walker-Warburg syndrome
Tags
Green Green List (high evidence)
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
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)
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)
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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • 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
  • Duchenne muscular dystrophy, 310200
  • Becker muscular dystrophy, 300376
Tags
  • gene-therapy-trial
  • Skewed X-inactivation
Green Green List (high evidence)
DMPK_CTG
STR
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myotonic dystrophy 1 160900
Tags
  • STR
Green Green List (high evidence)
DMPK_CTG
STR
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myotonic dystrophy 1 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
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
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myopathy, centronuclear, 160150
  • Charcot-Marie-Tooth disease, axonal, type 2M, 606482
Tags
  • missense
Green Green List (high evidence)
DNM2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myopathy, centronuclear, 160150
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
4 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, 254300
  • Myasthenia, limb-girdle, familial
  • Limb girdle congenital myasthenic syndrome
Tags
  • treatable
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, 208150
  • Myasthenic syndrome, congenital, 10, 254300
Tags
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
Tags
Green Green List (high evidence)
DPAGT1
4 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
  • Congenital disorder of glycosylation, type Ij, 608093
  • Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750
  • Limb girdle congenital myasthenic
  • tubular aggregates
  • congenital disorder of glycosylation type Ij (CDG-IJ)
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
  • musclular dystrophy dystroglycanopathy syndrome with severe epilepsy
  • Congenital disorder of glycosylation, type Iu 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, AD, 158600
Tags
Green Green List (high evidence)
DYSF
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Miyoshi muscular dystrophy 1 254130
  • Muscular dystrophy, limb-girdle, type 2B 253601
  • Myopathy, distal, with anterior tibial onset 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)
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)
ECEL1
5 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
  • Expert
Phenotypes
  • Arthrogryposis, distal, type 5D, 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
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • ?Glycogen storage disease XIII 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
  • vacuolar myopathy?
Tags
Green Green List (high evidence)
ETFA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glutaric acidemia IIA 231680
Tags
Green Green List (high evidence)
ETFB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glutaric acidemia IIB 231680
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
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Pontocerebellar hypoplasia, type 1B 614678
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, 300717
  • 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
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)
FKBP14
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 6, 14557
Tags
Green Green List (high evidence)
FKRP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
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
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
  • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Fukuyama congenital muscular dystrophy
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
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
  • Fukuyama congenital muscular dystrophy
  • Fukuyama Congenital Muscular Dystrophy
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
  • structural-variant
Green Green List (high evidence)
FLNC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Myopathy, myofibrillar, 5 609524
Tags
Green Green List (high evidence)
FLNC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • myofibrillar myopathy 5, 609524
  • Distal myopathy 4, 614065
Tags
Green Green List (high evidence)
FXR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Congenital multi-minicore myopathy
  • ?Myopathy, congenital proximal, with minicore lesions #618823
  • ?Myopathy, congenital, with respiratory insufficiency and bone fractures #618822
Tags
Green Green List (high evidence)
GAA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
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
  • Emory Genetics Laboratory
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • 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 232500
Tags
Green Green List (high evidence)
GFPT1
4 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
  • Congenital Myasthenic Syndrome, Recessive
  • Myasthenia, congenital, 12, with tubular aggregates, 610542
  • Limb-girdle congenital myasthenic syndrome
  • tubular aggregates
Tags
Green Green List (high evidence)
GMPPB
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
  • Congenital Myasthenic Syndrome
  • muscular dystrophy-dystroglycanopathy
  • congenital muscular dystrophy with mental retardation
  • GMPPB-CMS
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome
  • MDDGC14 with features of CMS
Tags
Green Green List (high evidence)
GMPPB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
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
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
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
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • 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
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Glycogen storage disease 0, muscle 611556
Tags
Green Green List (high evidence)
HADHA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • UKGTN
Phenotypes
  • Trifunctional protein deficiency 609015
Tags
Green Green List (high evidence)
HADHB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Trifunctional protein deficiency 609015
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
  • Spinal muscular atrophy with respiratory distress, 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
  • Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy
  • Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss
Region
0 reviews
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
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more)
  • 612513
  • PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect
Tags
Green Green List (high evidence)
2p15p16.1 region (includes BCL11A) Loss
ISCA-37408-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more)
  • 612513
  • PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect
Tags
Green Green List (high evidence)
17q21.3 recurrent region (includes KANSL1) Loss
ISCA-37420-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies
  • 610443
  • PMID: 25217958
  • Koolen-De Vries syndrome 610443
Tags
Green Green List (high evidence)
17q21.3 recurrent region (includes KANSL1) Loss
ISCA-37420-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies
  • 610443
  • PMID: 25217958
  • Koolen-De Vries syndrome 610443
Tags
Green Green List (high evidence)
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
ISCA-37429-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • 194190
  • Wolf-Hirschhorn syndrome
Tags
Green Green List (high evidence)
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
ISCA-37429-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • 194190
  • Wolf-Hirschhorn syndrome
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
ISCA-37478-Loss
Region
0 reviews
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
1 review
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
  • non-coding-known-pathogenic
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
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Walker-Warburg syndrome (WWS)
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
  • 614643
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
  • 616052
Tags
  • new-gene-name
Green Green List (high evidence)
ITGA7
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Congenital Muscular Dystrophy, ITGA7-related
  • Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204
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, Dominant
  • Nemaline myopathy 6, autosomal dominant, 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, 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, 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
  • Congenital Muscular Dystrophy, LAMA2-related
  • Muscular dystrophy, congenital merosin-deficient, 607855
  • Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855
Tags
Green Green List (high evidence)
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)
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)
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
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840
Tags
Green Green List (high evidence)
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
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Glycogen storage disease XI 612933
Tags
Green Green List (high evidence)
LMNA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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)
LMNA
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital fiber type disproportion myopathy
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 616165
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)
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)
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
  • Congenital myasthenic syndrome
  • Myasthenic syndrome, congenital, 17, 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
  • congenital myopathy with fibre type disproportion
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, Early-Onset, Areflexia, Respiratory Distress, andDysphagia
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399
Tags
Green Green List (high evidence)
MICU1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy with extrapyramidal signs, 615673
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)
MSTO1
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
Phenotypes
  • Congenital muscular dystrophy with Brain involvment
  • Myopathy, mitochondrial, and ataxia, 617675
Tags
Green Green List (high evidence)
MTM1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Myotubular myopathy, X-linked, 310400
Tags
Green Green List (high evidence)
MTM1
4 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • X-linked myotubular myopathy
  • Myotubular myopathy, X-linked, 310400
Tags
Green Green List (high evidence)
MUSK
4 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, 616325
  • Congenital Myasthenic Syndrome, Recessive
  • Congenital myasthenic syndrome
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, 614335
  • Lethal congenital contracture syndrome 4, 614915
Tags
Green Green List (high evidence)
MYH2
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
  • Proximal myopathy and ophthalmoplegia 605637
Tags
Green Green List (high evidence)
MYH3
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Arthrogryposis, distal, type 2A 193700
  • Arthrogryposis, distal, type 2B 601680
  • Arthrogryposis, distal, type 8 178110
Tags
Green Green List (high evidence)
MYH7
3 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, 160500
  • cardiomyopathy
  • distal myopathy
Tags
Green Green List (high evidence)
MYH7
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
  • Laing Distal Myopathy 160500
Tags
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, 160500
Tags
Green Green List (high evidence)
MYH8
5 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Trismus-pseudocamptodactyly syndrome, 158300
Tags
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
  • congenital myopathy
  • Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414
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 254940
Tags
Green Green List (high evidence)
MYMK
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Carey-Fineman-Ziter syndrome, 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 NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
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
  • congenital myasthenic syndrome 24, presynaptic 618198
  • CMS
Tags
Green Green List (high evidence)
MYOT
2 reviews
1 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
  • Limb-Girdle Muscular Dystrophy, Dominant
  • Muscular dystrophy, limb-girdle, type 1A, 159000
  • Limb-girdle muscular dystrophy
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, 609200
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
  • Congenital cap myopathy
  • Nemaline myopathy, 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
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
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • nemaline myopathy
  • Nemaline Myopathy, Recessive
  • Nemaline myopathy 2, autosomal recessive, 256030
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 615883
Tags
  • missense
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)
PAX7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hypotonia
  • Axial hypotonia
  • Ptosis
  • Scoliosis
  • Delayed motor milestones
  • Myopathy, congenital, progressive, with scoliosis, 618578
Tags
Green Green List (high evidence)
PFKM
4 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
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • 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
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • 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
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Congenital disorder of glycosylation, type It 614921
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)
PHKA1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
  • UKGTN
Phenotypes
  • Muscle glycogenosis 300559
Tags
Green Green List (high evidence)
PHKB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
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, 114300: Arthrogryposis, distal, type 5, 108145: Arthrogryposis, distal, with proprioception and touch, 617146
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 with epidermolysis bullosa simplex, 226670
  • Muscular dystrophy, limb-girdle autosomal recessive 17, 613723
  • Epidermolysis bullosa simplex with muscular dystrophy, 226670
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 with epidermolysis bullosa simplex, 226670
  • Limb-girdle muscular dystrophy
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
  • Congenital myasthenic syndrome
  • Plectin deficiency
  • myasthenic syndrome
  • Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS)
Tags
  • monogenic-polygenic
Green Green List (high evidence)
POLG
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459
  • Progressive external ophthalmoplegia, autosomal dominant 1 157640
  • Progressive external ophthalmoplegia, autosomal recessive 1 258450
Tags
Green Green List (high evidence)
POLG2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131
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 253280
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157
Tags
Green Green List (high evidence)
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)
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
  • Walker-Warburg syndrome
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
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
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
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 613150
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
Tags
Green Green List (high evidence)
PRKAG2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
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
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)
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)
PYROXD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myopathy, myofibrillar, 8, 617258
  • myopathy
  • early-onset myopathy with internalized nuclei and myofibrillar disorganization
Tags
Green Green List (high evidence)
RAPSN
4 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
  • Congenital Myasthenic Syndrome, Recessive
  • Congenital myasthenic syndrome
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326
  • acute respiratory crises
  • late and early onset
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 615895
Tags
Green Green List (high evidence)
RRM2B
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Literature
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
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)
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 117000
  • Minicore myopathy with external ophthalmoplegia 255320
  • Neuromuscular disease, congenital, with uniform type 1 fiber 117000
  • Malignant hyperthermia susceptibility 1 145600
Tags
  • pharmacogenetics
  • treatable
Green Green List (high evidence)
RYR3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • childhood-onset nemaline myopathy
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, 614198
  • Congenital Myasthenic Syndrome, Recessive
  • congenital myasthenic syndromes
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
Tags
Green Green List (high evidence)
SELENON
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Muscular dystrophy, rigid spine, 1, 602771
  • congenital myopathy
  • muscular dystophy
  • rigid spine syndrome
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
4 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 602771
  • Myopathy, congenital, with fiber-type disproportion 255310
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)
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
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
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, 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
  • Congenital myasthenic syndrome
  • ophthalmopleggia and apnea
  • Myasthenic syndrome, congenital, 21, presynaptic, 617239
Tags
Green Green List (high evidence)
SLC22A5
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
  • Carnitine deficiency, systemic primary 212140
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
  • 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
  • itochondrial myopathy
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 60928
Tags
Green Green List (high evidence)
SLC52A2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2, 614707
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, 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
  • Congenital myasthenic syndrome
  • Hereditory motor neuropathy
  • Myasthenic syndrome, congenital, 20, presynaptic, 617143
Tags
Green Green List (high evidence)
SMN1
4 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, 253300
  • Spinal muscular atrophy 2, 253550
  • Spinal muscular atrophy 3, 253400
  • Spinal muscular atrophy 4, 271150
Tags
  • cnv
  • gene-therapy-trial
Green Green List (high evidence)
SMN1
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review
Phenotypes
  • Spinal muscular atrophy-4, 271150
Tags
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 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 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, 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, 160565
Tags
  • missense
Green Green List (high evidence)
STIM1
4 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
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 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 612998
  • complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8)
Tags
Green Green List (high evidence)
SYNE1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Tags
Green Green List (high evidence)
SYNE2
6 reviews
2 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
Phenotypes
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999
  • congenital muscular dystrophy
Tags
Green Green List (high evidence)
SYT2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myasthenic syndrome, congenital, 7, presynaptic, 616040
Tags
Green Green List (high evidence)
TANGO2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 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
  • UKGTN
  • Emory Genetics Laboratory
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
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
Tags
  • new-gene-name
Green Green List (high evidence)
TNNI2
5 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 multiplex congenita, distal, type 2B, 601680
Tags
Green Green List (high evidence)
TNNT1
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
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • nemaline myopathy
  • Nemaline Myopathy, Recessive
  • Nemaline myopathy 5, Amish type, 605355
Tags
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
  • Arthyrogryposis, distal, type 2B, 601680
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)
TPM2
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
  • Emory Genetics Laboratory
Phenotypes
  • CAP myopathy 2 609285
  • Nemaline myopathy 4, autosomal dominant 609285
  • Arthrogryposis multiplex congenita, distal, type1 108120: Arthrogryposis, distal, type 2B 601680
Tags
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 609284
  • Myopathy, congenital, with fiber-type disproportion 255310
  • Nemaline myopathy 1, autosomal dominant or recessive 609284
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)
TRAPPC11
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
  • Literature
Phenotypes
  • congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract
  • infantile-onset muscle weakness
  • Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356
Tags
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
  • Literature
Phenotypes
  • Spinal muscular atrophy with congenital bone fractures 1 616866
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
  • severe congenital myopathy with congenital bone fractures, 616866
  • Spinal muscular atrophy with congenital bone fractures 1, 616866
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, 113500
Tags
Green Green List (high evidence)
TSEN54
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
  • ?Pontocerebellar hypoplasia type 5 610204
  • Pontocerebellar hypoplasia type 2A 277470
  • Pontocerebellar hypoplasia type 4 225753
Tags
Green Green List (high evidence)
TSFM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Combined oxidative phosphorylation deficiency 3 610505
Tags
Green Green List (high evidence)
TTN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Tibial muscular dystrophy, tardive, 600334
Tags
Green Green List (high evidence)
TTN
7 reviews
3 green 1 red
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)
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
  • Myopathy, early-onset, with fatal cardiomyopathy, 611705
Tags
Green Green List (high evidence)
TYMP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
Tags
Green Green List (high evidence)
UBA1
2 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Infantile Spinal Muscular Atrophy, X-Linked
  • Spinal muscular atrophy, X-linked 2, infantile, 301830
Tags
Green Green List (high evidence)
VAMP1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
  • Literature
Phenotypes
  • Congenital myasthenic syndrome
  • presynaptic CMS
Tags
Green Green List (high evidence)
VCP
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
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)
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)
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
  • vacuolar myopathy?
Tags
Green Green List (high evidence)
VRK1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Pontocerebellar hypoplasia type 1A 607596
Tags
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)
ADSSL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Myopathy, distal, 5, 617030
Tags
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
  • juvenile amyotrophic lateral sclerosis-2, 205100
Tags
Amber Amber List (moderate evidence)
ATP7A
2 reviews
Not set
Sources
  • Expert Review Amber
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489
Tags
Amber Amber List (moderate evidence)
CASQ1
5 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Amber
  • UCL
Phenotypes
  • Vacuolar myopathy with CASQ1 aggregates (VMCQA)
  • Myopathy, vacuolar, with CASQ1 aggregates, 616231
Tags
Amber Amber List (moderate evidence)
CASQ1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review
Phenotypes
  • Myopathy, vacuolar, with CASQ1 aggregates, 616231
Tags
Amber Amber List (moderate evidence)
CNTN1
4 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, 612540
Tags
  • watchlist
Amber Amber List (moderate evidence)
COL4A1
5 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Amber
  • Expert Review
Phenotypes
  • walker warburg syndrome, muscle eye brain disease
  • Brain small vessel disease with or without ocular anomalies, 175780
Tags
Amber Amber List (moderate evidence)
DPM1
6 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Amber
  • Emory Genetics Laboratory
Phenotypes
  • congenital muscular dystrophies
  • Congenital disorder of glycosylation, type Ie 608799
Tags
Amber Amber List (moderate evidence)
DPM3
4 reviews
2 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, 612937
  • limb-girdle muscular dystrophy
  • dystroglycanopathy
Tags
Amber Amber List (moderate evidence)
DPM3
6 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Amber
  • Emory Genetics Laboratory
Phenotypes
  • congenital muscular dystrophies
  • Congenital disorder of glycosylation, type Io, 612937'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937
Tags
Amber Amber List (moderate evidence)
DYSF
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2B, 253601
  • Myopathy, distal, with anterior tibial onset, 606768
  • Miyoshi muscular dystrophy 1, 254130
Tags
Amber Amber List (moderate evidence)
EXOSC8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • UKGTN
Phenotypes
  • Pontocerebellar hypoplasia, type 1C 616081
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, myofibrillar, 5, 609524
  • early-onset restrictive cardiomyopathy and congenital myopathy
Tags
Amber Amber List (moderate evidence)
GOLGA2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • London South GLH
Phenotypes
  • Secondary dystroglycanopathy
Tags
Amber Amber List (moderate evidence)
HACD1
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Amber
  • Expert Review
Phenotypes
  • congenital myopathy
Tags
  • watchlist
Amber Amber List (moderate evidence)
HSPB1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert
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 158590
Tags
Amber Amber List (moderate evidence)
KY
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UCL
Phenotypes
  • congenital myopathy
Tags
  • watchlist
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
  • vacuolar myopathy?
  • Danon disease, 300257
Tags
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
  • Centronuclear myopathy, autosomal, modifier of, 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
  • myopathy and cardiomyopathy
  • Cardiomyopathy, hypertrophic, 4, 115197
Tags
  • watchlist
Amber Amber List (moderate evidence)
MYF5
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert list
Phenotypes
  • OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
Tags
Amber Amber List (moderate evidence)
NEFL
2 reviews
MONOALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UCL
Phenotypes
  • Nemaline Myopathy
Tags
  • watchlist
Amber Amber List (moderate evidence)
POGLUT1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • London South GLH
Phenotypes
  • ?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232
Tags
  • watchlist
Amber Amber List (moderate evidence)
POGLUT1
2 reviews
1 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, 617232
Tags
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, 617222
Tags
Amber Amber List (moderate evidence)
REEP1
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • ?Neuronopathy, distal hereditary motor, type VB 614751
Tags
Amber Amber List (moderate evidence)
SETX
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Amyotrophic lateral sclerosis 4, juvenile 602433
Tags
Amber Amber List (moderate evidence)
SMCHD1
6 reviews
2 green 1 red
Other - please specifiy in evaluation comments
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Fascioscapulohumeral muscular dystrophy 2, digenic 158901
  • fascioscapulohumeral muscular dystrophy
Tags
  • digenic
Amber Amber List (moderate evidence)
TCAP
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Emory Genetics Laboratory
Phenotypes
  • Congenital muscular dystrophies
Tags
Amber Amber List (moderate evidence)
TOR1AIP1
2 reviews
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, 617072
Tags
Amber Amber List (moderate evidence)
TRDN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441
Tags
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 182980
  • Amyotrophic lateral sclerosis 8 608627
Tags
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)
AMPD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Rhabdomyolysis
  • Myopathy due to myoadenylate deaminase deficiency 615511
Tags
Red Red List (low evidence)
ANO5
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Gnathodiaphyseal dysplasia, 166260
  • Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319
  • Limb-Girdle Muscular Dystrophy, Recessive
Tags
Red Red List (low evidence)
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
  • Brody myopathy, 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, 612954
Tags
Red Red List (low evidence)
BET1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
Phenotypes
  • Congenital muscular dystrophy with epilepsy
Tags
Red Red List (low evidence)
BSCL2
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Tags
Red Red List (low evidence)
BVES
7 reviews
2 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 2X, 616812
  • limb girdle muscular dystrophy
  • cardiac arrhythmia
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
  • episodic ataxia plus myasthenic syndrome
  • hemiplegic migraine plus disturbed NMJ function
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
  • Cardiomyopathy, familial hypertrophic 192600
  • Creatine phosphokinase, elevated serum 123320
  • Long QT syndrome 9 611818
  • Muscular dystrophy, limb-girdle, type IC 607801
  • Myopathy, distal, Tateyama type 614321
  • Rippling muscle disease 606072
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 616209
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911
  • Spinal muscular atrophy, Jokela type 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_CCTG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Myotonic dystrophy 2 602668
Tags
  • NGS Not Validated
  • STR
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
Not set
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 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 600649
  • CPT II deficiency, lethal neonatal 608836
  • CPT II deficiency, myopathic, stress-induced 255110
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 608810
  • Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869
Tags
Red Red List (low evidence)
CYP2C8
2 reviews
1 green
Unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 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, 601419
  • Scapuloperoneal syndrome, neurogenic, Kaeser type, 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 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Myotonic dystrophy 1 160900
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
DMPK
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
Phenotypes
  • MYOTONIC DYSTROPHY 1 (DM1)
Tags
Red Red List (low evidence)
DMPK
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • spinal muscular atrophy, myotonic dystrophy (type 1), Prader-Willi syndrome, Angelman syndrome, and maternal UPD 14.
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
DMPK_CTG
STR
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Myotonic dystrophy 1 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
  • Myofibrillar Myopathy, Dominant
  • Muscular dystrophy, limb-girdle, type 1E 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
2 reviews
1 red
Not set
Sources
  • UKGTN
Phenotypes
  • Facioscapulohumeral Muscular Dystrophy 1A
Tags
  • cnv
  • currently-ngs-unreportable
  • treatable
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)
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)
EMD
3 reviews
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
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 pulmonaryfibrosis, 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)
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, 232500
Tags
Red Red List (low evidence)
GFER
3 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
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)
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 605820
Tags
Red Red List (low evidence)
GOSR2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
Phenotypes
  • Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan
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 wtih early-onset Paget disease without frontotemporal
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 218040
  • Congenital myopathy with excess of muscle spindles 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 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, 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
  • Myofibrillar Myopathy, Dominant
  • Myopathy, myofibrillar, 4, 609452
Tags
Red Red List (low evidence)
LGI4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Other
  • Literature
Phenotypes
  • Arthrogryposis Multiplex Congenita
  • Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468
  • AMCNMY
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 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
  • MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
  • MELAS 540000
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
  • Myopathy, centronuclear, 3, 614408
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 614369
  • Deafness, autosomal dominant 4A 600652
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
  • Muscular dystrophy, limb-girdle, type 1A 159000
  • Myopathy, myofibrillar, 3 609200
  • Myopathy, spheroid body 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)
OBSCN
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • Expert Review
Tags
  • watchlist
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, 164300
  • Oculopharyngeal muscular dystrophy
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)
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
  • Neutral lipid storage disease with myopathy, 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, 616094
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249
  • limb girdle muscular dystrophy
  • congenital muscular dystrophy
Tags
Red Red List (low evidence)
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
  • Mitochondrial myopathy and sideroblastic anemia 1, 600462
  • Myopathy, Lactic Acidosis, and Sideroblastic Anemia
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, early-onset, with or without immunodeficiency, 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
  • Literature
  • Radboud University Medical Center, Nijmegen
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)
SLC25A42
4 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction
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
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fascioscapulohumeral muscular dystrophy 2, digenic, 158901
Tags
Red Red List (low evidence)
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 176270
Tags
  • currently-ngs-unreportable
Red Red List (low evidence)
SPTBN4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • ?Myopathy, congenital, with neuropathy and deafness, 617519
Tags
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
Tags
Red Red List (low evidence)
STIM2
2 reviews
1 red
Not set
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
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 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, 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 614302
Tags
Red Red List (low evidence)
TNNC2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London South GLH
Phenotypes
  • congenital myopathy
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 2B, 601680
  • Arthrogryposis
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)
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
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 613954
  • Charcot-Marie-Tooth disease, type 2Y 616687
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 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
  • vacuolar myopathy
  • Arthrogryposis renal dysfunction, and cholestasis 1, 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
  • Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis
  • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Tags
Red Red List (low evidence)
ZC4H2
2 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • NHS GMS
  • London South GLH
Phenotypes
  • Wieacker-Wolff syndrome, 314580
Tags
No list No list
CAVIN1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Lipodystrophy, congenital generalized, type 4 (MIM#613327)
Tags
No list No list
GGPS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Muscular dystrophy
  • Deafness
  • Ovarian insufficiency
Tags
No list No list
MYL2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • infantile muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy
Tags
No list No list
PNPLA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Neutral lipid storage disease with myopathy 610717
Tags
No list No list
PYROXD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Myopathy, myofibrillar, 8, 617258
  • adult-onset limb girdle muscular dystrophy
Tags

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