The latest signed off version for the GMS is v19.1. The current version, shown here, may differ from the signed-off version.

Other rare neuromuscular disorders (Version 19.202)

Relevant disorders: Neuromuscular disorders, R381
This panel contains these 7 panels:
Congenital myopathy v4.37
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32
Congenital muscular dystrophy v4.23
Congenital myaesthenic syndrome v4.5
Rhabdomyolysis and metabolic muscle disorders v3.48
Distal myopathies v3.17
Paediatric motor neuronopathies v3.6
Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Latest signed off version: v19.1 (22 Mar 2023)
Previously signed off versions: v12.1, v5.43

Description

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

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R381 Other rare neuromuscular disorders'.

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

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

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

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

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

The constituent panels will continue to be curated based on external reviews and Genomics England curation. New changes to constituent panels will be reflected in an increase to the minor version of the panel and details of these can be viewed on each constituent panel 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

One or more of the constituent panels of this super panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

473 Entities

473 reviewed, 294 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 473 Entitiess
Green Green List (high evidence)	ACAD9 Rhabdomyolysis and metabolic muscle disorders v3.48	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Literature Phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 Tags
Green Green List (high evidence)	ACADM Rhabdomyolysis and metabolic muscle disorders v3.48	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 Rhabdomyolysis and metabolic muscle disorders v3.48	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, OMIM:201475 Tags
Green Green List (high evidence)	ACADVL Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes VLCAD deficiency, 201475 metabolic myopathy rhabdomyolsis Tags
Green Green List (high evidence)	ACTA1 Congenital myopathy v4.37	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Myopathy, actin, congenital, with cores, OMIM:161800 Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800 Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310 Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 Tags
Green Green List (high evidence)	ACTA1 Distal myopathies v3.17	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 Tags
Green Green List (high evidence)	ACTN2 Congenital myopathy v4.37	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London South GLH Phenotypes Myopathy, congenital with structured cores and Z-line abnormalities, OMIM:618654 Tags
Green Green List (high evidence)	ADSSL1 Distal myopathies v3.17	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes Myopathy, distal, 5, OMIM:617030 Tags new-gene-name
Green Green List (high evidence)	ADSSL1 Congenital myopathy v4.37	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Phenotypes Myopathy, distal, 5, OMIM:617030 Tags new-gene-name
Green Green List (high evidence)	AGL Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Glycogen storage disease IIIa 232400 Glycogen storage disease IIIb 232400 Tags
Green Green List (high evidence)	AGRN Congenital myaesthenic syndrome v4.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120 Tags
Green Green List (high evidence)	ALDOA Rhabdomyolysis and metabolic muscle disorders v3.48	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, OMIM:611881 Tags
Green Green List (high evidence)	ALG14 Congenital myaesthenic syndrome v4.5	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Eligibility statement prior genetic testing Phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227 Tags
Green Green List (high evidence)	ALG2 Congenital myaesthenic syndrome v4.5	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates, OMIM:616228 Tags
Green Green List (high evidence)	AMPD1 Rhabdomyolysis and metabolic muscle disorders v3.48	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Rhabdomyolysis Myopathy due to myoadenylate deaminase deficiency 615511 Tags
Green Green List (high evidence)	ANO5 Rhabdomyolysis and metabolic muscle disorders v3.48	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 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Distal myopathies v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Miyoshi muscular dystrophy 3, 613319 Tags
Green Green List (high evidence)	AR_CAG STR Congenital myopathy v4.37	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags STR
Green Green List (high evidence)	AR_CAG STR Distal myopathies v3.17	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags STR
Green Green List (high evidence)	AR_CAG STR Paediatric motor neuronopathies v3.6	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Literature Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags STR
Green Green List (high evidence)	ASAH1 Paediatric motor neuronopathies v3.6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950 Tags
Green Green List (high evidence)	ASCC3 Congenital myopathy v4.37	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 81, OMIM:620700 Tags
Green Green List (high evidence)	B3GALNT2 Congenital muscular dystrophy v4.23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181 Tags
Green Green List (high evidence)	B4GAT1 Congenital muscular dystrophy v4.23	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287 Tags
Green Green List (high evidence)	BAG3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Distal myopathies v3.17	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 Paediatric motor neuronopathies v3.6	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290 Tags
Green Green List (high evidence)	BIN1 Congenital myopathy v4.37	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Centronuclear myopathy 2, OMIM:255200 Tags watchlist_moi
Green Green List (high evidence)	CACNA1S Congenital myopathy v4.37	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Congenital myopathy, MONDO:0019952 Tags
Green Green List (high evidence)	CACNA1S Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes {Malignant hyperthermia susceptibility 5}, OMIM:601887 Tags
Green Green List (high evidence)	CAPN3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600 Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129 Tags Q2_23_MOI
Green Green List (high evidence)	CAV3 Rhabdomyolysis and metabolic muscle disorders v3.48	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myopathy, distal, Tateyama type, OMIM:614321 Rippling muscle disease, OMIM:606072 Tags
Green Green List (high evidence)	CAV3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Rippling muscle disease 2, OMIM:606072 Myopathy, distal, Tateyama type, OMIM:614321 Tags
Green Green List (high evidence)	CAVIN1 Congenital muscular dystrophy v4.23	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Lipodystrophy, congenital generalized, type 4, OMIM:613327 Tags
Green Green List (high evidence)	CCDC78 Congenital myopathy v4.37	7 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London South GLH Expert Radboud University Medical Center, Nijmegen Phenotypes Myopathy, centronuclear, 4, OMIM:614807 Tags Q4_22_demote_amber Q4_22_expert_review
Green Green List (high evidence)	CFL2 Congenital myopathy v4.37	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nemaline myopathy 7, autosomal recessive, OMIM:610687 Tags
Green Green List (high evidence)	CHAT Congenital myaesthenic syndrome v4.5	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Myasthenic syndrome, congenital, 6, presynaptic, OMIM:254210 Tags
Green Green List (high evidence)	CHCHD10 Paediatric motor neuronopathies v3.6	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, Jokela type, OMIM:615048 Tags
Green Green List (high evidence)	CHKB Congenital muscular dystrophy v4.23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy, congenital, megaconial type, OMIM:602541 Tags
Green Green List (high evidence)	CHKB Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Expert list Phenotypes Muscular dystrophy, congenital, megaconial type, OMIM:602541 Tags
Green Green List (high evidence)	CHRNA1 Congenital myaesthenic syndrome v4.5	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Myasthenic syndrome, congenital, 1A, slow-channel, OMIM:601462 Myasthenic syndrome, congenital, 1B, fast-channel, OMIM:608930 Tags
Green Green List (high evidence)	CHRNB1 Congenital myaesthenic syndrome v4.5	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, OMIM:616314 Myasthenic syndrome, congenital, 2A, slow-channel, OMIM:616313 Tags deletions
Green Green List (high evidence)	CHRND Congenital myaesthenic syndrome v4.5	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes ?Myasthenic syndrome, congenital, 3A, slow-channel, OMIM:616321 ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, OMIM:616323 Myasthenic syndrome, congenital, 3B, fast-channel, OMIM:616322 Tags
Green Green List (high evidence)	CHRNE Congenital myaesthenic syndrome v4.5	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809 Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931 Tags
Green Green List (high evidence)	CHRNG Congenital myaesthenic syndrome v4.5	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes transient neonatal myasthenia gravis, MONDO:0018326 Tags
Green Green List (high evidence)	COL12A1 Congenital muscular dystrophy v4.23	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Ullrich congenital muscular dystrophy 2 Bethlem myopathy 2 Tags
Green Green List (high evidence)	COL12A1 Congenital myopathy v4.37	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UCL Phenotypes EDS/myopathy overlap syndrome Tags
Green Green List (high evidence)	COL13A1 Congenital myaesthenic syndrome v4.5	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Eligibility statement prior genetic testing Literature Phenotypes Myasthenic syndrome, congenital, 19, OMIM:616720 Tags treatable
Green Green List (high evidence)	COL6A1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Bethlem myopathy 1, OMIM:158810 Ullrich congenital muscular dystrophy 1, OMIM:254090 Tags
Green Green List (high evidence)	COL6A1 Congenital myopathy v4.37	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Bethlem myopathy 1, OMIM:158810 Ullrich congenital muscular dystrophy 1, OMIM:254090 Tags
Green Green List (high evidence)	COL6A1 Congenital muscular dystrophy v4.23	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Bethlem myopathy 1, OMIM:158810 Ullrich congenital muscular dystrophy 1, OMIM:254090 Tags
Green Green List (high evidence)	COL6A2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	1 review 1 green	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)	COL6A2 Congenital muscular dystrophy v4.23	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 Congenital myopathy v4.37	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090 Tags
Green Green List (high evidence)	COL6A3 Congenital myopathy v4.37	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090 Tags
Green Green List (high evidence)	COL6A3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090 Tags
Green Green List (high evidence)	COL6A3 Congenital muscular dystrophy v4.23	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090 Tags
Green Green List (high evidence)	COLQ Congenital myaesthenic syndrome v4.5	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Myasthenic syndrome, congenital, 5, OMIM:603034 Tags treatable
Green Green List (high evidence)	COQ4 Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Expert list Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276 Tags
Green Green List (high evidence)	COQ8A Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Expert list Phenotypes Coenzyme Q10 deficiency, primary, 4, OMIM:612016 Tags
Green Green List (high evidence)	COX6A2 Congenital myopathy v4.37	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 Tags
Green Green List (high evidence)	CPT2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes CPT II deficiency, infantile, OMIM:600649 CPT II deficiency, lethal neonatal, OMIM:608836 Tags
Green Green List (high evidence)	CPT2 Rhabdomyolysis and metabolic muscle disorders v3.48	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes CPT II deficiency, myopathic, stress-induced, OMIM:255110 Exercise intolerance and rhabdomyolysis, late onset Tags
Green Green List (high evidence)	CRYAB Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myopathy, myofibrillar, 2, OMIM:608810 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 Tags
Green Green List (high evidence)	CRYAB Distal myopathies v3.17	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Myopathy, myofibrillar, 2, OMIM:608810 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 Tags
Green Green List (high evidence)	DAG1 Congenital muscular dystrophy v4.23	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Emory Genetics Laboratory Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, OMIM:616538 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818 Tags watchlist_moi
Green Green List (high evidence)	DAG1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Distal myopathies v3.17	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Phenotypes Myopathy, myofibrillar 1, 601419 Tags
Green Green List (high evidence)	DES Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	7 reviews 3 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, type 2R, 615325 myofibrillar myopathy cardiomyopathy limb girdle muscular dystrophy Tags
Green Green List (high evidence)	DGUOK Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Expert list Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070 Tags
Green Green List (high evidence)	DMD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Congenital muscular dystrophy v4.23	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Becker muscular dystrophy, OMIM:300376 Duchenne muscular dystrophy, OMIM:310200 Tags gene-therapy-trial Skewed X-inactivation
Green Green List (high evidence)	DMD Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Becker muscular dystrophy 300376 Tags gene-therapy-trial Skewed X-inactivation
Green Green List (high evidence)	DMPK_CTG STR Congenital myopathy v4.37	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags STR
Green Green List (high evidence)	DMPK_CTG STR Congenital muscular dystrophy v4.23	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags STR
Green Green List (high evidence)	DNAJB6 Distal myopathies v3.17	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 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Congenital myopathy v4.37	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Centronuclear myopathy 1, OMIM:160150 Lethal congenital contracture syndrome 5, OMIM:615368 Tags missense watchlist_moi
Green Green List (high evidence)	DNM2 Distal myopathies v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Centronuclear myopathy 1, OMIM:160150 Tags
Green Green List (high evidence)	DOK7 Congenital myopathy v4.37	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Fetal akinesia deformation sequence 3, OMIM:618389 Myasthenic syndrome, congenital, 10, OMIM:254300 Tags
Green Green List (high evidence)	DOK7 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Congenital myaesthenic syndrome v4.5	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Myasthenic syndrome, congenital, 10, OMIM:254300 Tags treatable
Green Green List (high evidence)	DOLK Congenital muscular dystrophy v4.23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Congenital disorder of glycosylation, type Im, OMIM:610768 Tags
Green Green List (high evidence)	DPAGT1 Congenital myaesthenic syndrome v4.5	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates, OMIM:614750 Tags
Green Green List (high evidence)	DPM2 Congenital muscular dystrophy v4.23	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Emory Genetics Laboratory Phenotypes Congenital disorder of glycosylation, type Iu, OMIM:615042 Tags
Green Green List (high evidence)	DYNC1H1 Paediatric motor neuronopathies v3.6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, OMIM:158600 Tags
Green Green List (high evidence)	DYSF Distal myopathies v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Miyoshi muscular dystrophy 1, 254130 Tags
Green Green List (high evidence)	DYSF Rhabdomyolysis and metabolic muscle disorders v3.48	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Miyoshi muscular dystrophy 1, OMIM:254130 Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601 Myopathy, distal, with anterior tibial onset, OMIM:606768 Tags
Green Green List (high evidence)	DYSF Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130 Limb-Girdle Muscular Dystrophy, Recessive Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	ECEL1 Congenital myopathy v4.37	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Expert Phenotypes Arthrogryposis, distal, type 5D, OMIM:615065 Tags
Green Green List (high evidence)	EMD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Phenotypes Glycogen storage disease XIII, OMIM:612932 Tags
Green Green List (high evidence)	EPG5 Congenital myopathy v4.37	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Vici syndrome, OMIM:242840 Tags
Green Green List (high evidence)	ETFA Rhabdomyolysis and metabolic muscle disorders v3.48	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Literature Emory Genetics Laboratory UKGTN Phenotypes Glutaric acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green Green List (high evidence)	ETFB Rhabdomyolysis and metabolic muscle disorders v3.48	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Glutaric acidemia IIB, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green Green List (high evidence)	ETFDH Rhabdomyolysis and metabolic muscle disorders v3.48	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Glutaric acidemia IIC 231680 Tags
Green Green List (high evidence)	EXOSC3 Paediatric motor neuronopathies v3.6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678 Tags
Green Green List (high evidence)	FDX2 Rhabdomyolysis and metabolic muscle disorders v3.48	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900 mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 Tags
Green Green List (high evidence)	FHL1 Distal myopathies v3.17	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Phenotypes Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 Tags
Green Green List (high evidence)	FHL1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Congenital muscular dystrophy v4.23	3 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Expert Review Phenotypes Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, OMIM:300717 Tags
Green Green List (high evidence)	FKBP14 Congenital myopathy v4.37	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557 Tags
Green Green List (high evidence)	FKRP Congenital muscular dystrophy v4.23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, OMIM:613153 Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5, OMIM:606612 Tags
Green Green List (high evidence)	FKRP Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Rhabdomyolysis and metabolic muscle disorders v3.48	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)	FKTN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Congenital muscular dystrophy v4.23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800 Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4, OMIM:613152 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, OMIM:611588 Tags structural-variant
Green Green List (high evidence)	FLAD1 Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Expert list Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, OMIM:255100 Tags
Green Green List (high evidence)	FLNC Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Emory Genetics Laboratory Phenotypes Myopathy, distal, 4, OMIM:614065 Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550 Myopathy, myofibrillar, 5, OMIM:609524 Myopathy, myofibrillar, 5, MONDO:0012289 Tags
Green Green List (high evidence)	FLNC Distal myopathies v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Myopathy, distal, 4, OMIM:614065 Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550 Myopathy, myofibrillar, 5, OMIM:609524 Myopathy, myofibrillar, 5, MONDO:0012289 Tags
Green Green List (high evidence)	FXR1 Congenital myopathy v4.37	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Myopathy, congenital proximal, with minicore lesions, OMIM:618823 Myopathy, congenital, with respiratory insufficiency and bone fractures, OMIM:618822 Tags
Green Green List (high evidence)	GAA Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Phenotypes Glycogen storage disease II 232300 Tags
Green Green List (high evidence)	GAA Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Glycogen storage disease II 232300 Tags
Green Green List (high evidence)	GBE1 Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Glycogen storage disease IV, OMIM:232500 Tags
Green Green List (high evidence)	GFPT1 Congenital myaesthenic syndrome v4.5	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542 Tags
Green Green List (high evidence)	GGPS1 Congenital muscular dystrophy v4.23	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518 Tags
Green Green List (high evidence)	GMPPB Congenital muscular dystrophy v4.23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, OMIM:615350 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14, OMIM:615351 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, OMIM:615352 Tags
Green Green List (high evidence)	GMPPB Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 Tags
Green Green List (high evidence)	GMPPB Congenital myaesthenic syndrome v4.5	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Eligibility statement prior genetic testing Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 Tags
Green Green List (high evidence)	GMPPB Rhabdomyolysis and metabolic muscle disorders v3.48	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 Tags
Green Green List (high evidence)	GNE Distal myopathies v3.17	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Nonaka myopathy, 605820 Tags
Green Green List (high evidence)	GNE Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen 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 Rhabdomyolysis and metabolic muscle disorders v3.48	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 Rhabdomyolysis and metabolic muscle disorders v3.48	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 Literature UKGTN Phenotypes Glycogen storage disease 0, muscle, OMIM:611556 Tags
Green Green List (high evidence)	HACD1 Congenital myopathy v4.37	9 reviews 6 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Expert Review Phenotypes Myopathy, congenital, nonprogressive, OMIM:619967 Tags
Green Green List (high evidence)	HADHA Rhabdomyolysis and metabolic muscle disorders v3.48	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 Mitochondrial trifunctional protein deficiency, OMIM:609015 Tags
Green Green List (high evidence)	HADHB Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mitochondrial trifunctional protein deficiency 2, OMIM:620300 Tags
Green Green List (high evidence)	HNRNPA2B1 Congenital myopathy v4.37	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Expert list Phenotypes oculopharyngodistal myopathy muscular dystrophy congenital myopathy Tags
Green Green List (high evidence)	HNRNPA2B1 Congenital muscular dystrophy v4.23	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Research Expert list Other Phenotypes Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422 Tags
Green Green List (high evidence)	HNRNPDL Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Distal myopathies v3.17	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 Distal myopathies v3.17	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 Paediatric motor neuronopathies v3.6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Neuronopathy, distal hereditary motor, type VI, OMIM:604320 Tags
Green Green List (high evidence)	INPP5K Congenital muscular dystrophy v4.23	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Literature Phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404 Tags
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss ISCA-37404-Loss Region Paediatric motor neuronopathies v3.6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes microcephaly 105833 Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome Tags
Green Green List (high evidence)	2p15p16.1 region (includes BCL11A) Loss ISCA-37408-Loss Region Paediatric motor neuronopathies v3.6	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies Tags
Green Green List (high evidence)	2p15p16.1 region (includes BCL11A) Loss ISCA-37408-Loss Region Congenital myopathy v4.37	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies Tags
Green Green List (high evidence)	17q21.3 recurrent region (includes KANSL1) Loss ISCA-37420-Loss Region Congenital myopathy v4.37	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Koolen-De Vries syndrome, OMIM:610443 Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural features Tags
Green Green List (high evidence)	17q21.3 recurrent region (includes KANSL1) Loss ISCA-37420-Loss Region Paediatric motor neuronopathies v3.6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Koolen-De Vries syndrome, OMIM:610443 Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature Tags
Green Green List (high evidence)	4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss ISCA-37429-Loss Region Congenital myopathy v4.37	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Wolf-Hirschhorn syndrome, OMIM:194190 Tags
Green Green List (high evidence)	4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss ISCA-37429-Loss Region Paediatric motor neuronopathies v3.6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Wolf-Hirschhorn syndrome, OMIM:194190 Tags
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss ISCA-37478-Loss Region Paediatric motor neuronopathies v3.6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes microcephaly Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome 105830 Tags
Green Green List (high evidence)	ISCU Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myopathy with lactic acidosis, hereditary 255125 Tags for-review non-coding-known-pathogenic to_be_confirmed_NHSE
Green Green List (high evidence)	ISPD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Congenital muscular dystrophy v4.23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, OMIM:614643 Tags new-gene-name
Green Green List (high evidence)	ITGA7 Congenital muscular dystrophy v4.23	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy, congenital, due to ITGA7 deficiency, OMIM:613204 Tags
Green Green List (high evidence)	JAG2 Congenital muscular dystrophy v4.23	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566 Tags
Green Green List (high evidence)	KBTBD13 Congenital myopathy v4.37	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Nemaline myopathy 6, autosomal dominant, OMIM:609273 Tags missense
Green Green List (high evidence)	KLHL40 Congenital myopathy v4.37	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Nemaline myopathy 8, autosomal recessive, OMIM:615348 Tags
Green Green List (high evidence)	KLHL41 Congenital myopathy v4.37	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Nemaline myopathy 9, OMIM:615731 Tags
Green Green List (high evidence)	LAMA2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Congenital muscular dystrophy v4.23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, OMIM:607855 Tags
Green Green List (high evidence)	LAMP2 Rhabdomyolysis and metabolic muscle disorders v3.48	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 Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Danon disease 300257 Tags
Green Green List (high evidence)	LAMP2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Danon disease, 300257 Tags
Green Green List (high evidence)	LARGE1 Congenital muscular dystrophy v4.23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, OMIM:608840 Tags
Green Green List (high evidence)	LDB3 Distal myopathies v3.17	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 Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Literature UKGTN Phenotypes Glycogen storage disease XI 612933 Tags
Green Green List (high evidence)	LMNA Congenital muscular dystrophy v4.23	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Congenital Muscular Dystrophy, LMNA-related (Dominant) Emery-Dreifuss muscular dystrophy 2, AD, 181350 Tags
Green Green List (high evidence)	LMNA Congenital myopathy v4.37	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Congenital fiber type disproportion myopathy Tags
Green Green List (high evidence)	LMNA Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Emery-Dreifuss muscular dystrophy 2, AD, 181350 Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	LMOD3 Congenital myopathy v4.37	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Literature Phenotypes Nemaline myopathy 10, OMIM:616165 Tags
Green Green List (high evidence)	LPIN1 Rhabdomyolysis and metabolic muscle disorders v3.48	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Myoglobinuria, acute recurrent, autosomal recessive 268200 Tags
Green Green List (high evidence)	LPIN1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myoglobinuria, acute recurrent, autosomal recessive, 268200 myoglobinuria exercise induced myopathy Tags
Green Green List (high evidence)	LRP4 Congenital myaesthenic syndrome v4.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Eligibility statement prior genetic testing Phenotypes ?Myasthenic syndrome, congenital, 17, OMIM:616304 Tags
Green Green List (high evidence)	MAP3K20 Congenital myopathy v4.37	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UCL Phenotypes Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760 Tags
Green Green List (high evidence)	MATR3 Distal myopathies v3.17	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 Congenital myopathy v4.37	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, OMIM:614399 Tags
Green Green List (high evidence)	MICU1 Congenital muscular dystrophy v4.23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Myopathy with extrapyramidal signs, 615673 Tags
Green Green List (high evidence)	MICU1 Congenital myopathy v4.37	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myopathy with extrapyramidal signs, OMIM:615673 Tags
Green Green List (high evidence)	MLIP Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 Tags
Green Green List (high evidence)	MSTO1 Congenital muscular dystrophy v4.23	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675 Tags Q1_24_MOI
Green Green List (high evidence)	MT-CO1 Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 2 green	MITOCHONDRIAL	Sources NHS GMS Expert Review Green Expert Review Expert list Phenotypes Leber hereditary optic neuropathy, MONDO:0010788 myoglobinuria, MONDO:0000866 Tags gene-checked
Green Green List (high evidence)	MT-CO2 Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 2 green	MITOCHONDRIAL	Sources NHS GMS Expert Review Green Expert Review Expert list Phenotypes Cytochrome oxidase deficiency rhabdomyolysis, MONDO:0005290 myoglobinuria, MONDO:0000866 Tags gene-checked
Green Green List (high evidence)	MTM1 Congenital myopathy v4.37	6 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Phenotypes Myopathy, centronuclear, X-linked, OMIM:310400 Tags
Green Green List (high evidence)	MTM1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Yorkshire and North East GLH Expert Review Expert Review Green Expert list Literature Phenotypes Myopathy, centronuclear, X-linked, OMIM:310400 Tags
Green Green List (high evidence)	MUSK Congenital myaesthenic syndrome v4.5	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, OMIM:616325 Tags deletions
Green Green List (high evidence)	MYBPC1 Congenital myopathy v4.37	4 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Expert Phenotypes Arthrogryposis, distal, type 1B, OMIM:614335 Lethal congenital contracture syndrome 4, OMIM:614915 Myopathy, congenital, with tremor, OMIM:618524 Tags
Green Green List (high evidence)	MYH2 Congenital myopathy v4.37	6 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Proximal myopathy and ophthalmoplegia, OMIM:605637 Tags
Green Green List (high evidence)	MYH3 Congenital myopathy v4.37	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert UKGTN Phenotypes Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700 Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469 Tags Q2_23_MOI Q2_23_NHS_review
Green Green List (high evidence)	MYH7 Distal myopathies v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Laing distal myopathy, OMIM:160500 Laing early-onset distal myopathy, MONDO:0008050 Scapuloperoneal syndrome, myopathic type, OMIM:181430 MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409 Tags
Green Green List (high evidence)	MYH7 Congenital myopathy v4.37	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Laing distal myopathy, OMIM:160500 Myopathy, myosin storage, autosomal dominant, OMIM:608358 Myopathy, myosin storage, autosomal recessive, OMIM:255160 Tags Q2_23_NHS_review Q4_22_MOI
Green Green List (high evidence)	MYH7 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Laing distal myopathy, OMIM:160500 Myopathy, myosin storage, autosomal dominant, OMIM:608358 Myopathy, myosin storage, autosomal recessive, OMIM:255160 Scapuloperoneal syndrome, myopathic type, OMIM:181430 Tags Q4_22_MOI
Green Green List (high evidence)	MYL1 Congenital myopathy v4.37	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Expert Review Phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414 Tags
Green Green List (high evidence)	MYL2 Congenital myopathy v4.37	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424 Tags
Green Green List (high evidence)	MYMK Congenital myopathy v4.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Carey-Fineman-Ziter syndrome, OMIM:254940 Tags
Green Green List (high evidence)	MYO18B Congenital myopathy v4.37	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549 Tags
Green Green List (high evidence)	MYO9A Congenital myaesthenic syndrome v4.5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Literature Phenotypes Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198 Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597 Tags
Green Green List (high evidence)	MYOD1 Congenital myopathy v4.37	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975 Tags
Green Green List (high evidence)	MYOT Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Myopathy, myofibrillar, 3, OMIM:609200 Myopathy, spheroid body, OMIM:182920 Tags
Green Green List (high evidence)	MYOT Distal myopathies v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Phenotypes Myopathy, myofibrillar, 3, OMIM:609200 Myopathy, spheroid body, OMIM:182920 Tags
Green Green List (high evidence)	MYPN Congenital myopathy v4.37	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH UCL Phenotypes Nemaline myopathy 11, autosomal recessive, OMIM:617336 Tags
Green Green List (high evidence)	NEB Distal myopathies v3.17	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 Congenital myopathy v4.37	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Phenotypes Nemaline myopathy 2, autosomal recessive, OMIM:256030 Tags watchlist_moi
Green Green List (high evidence)	OBSCN Rhabdomyolysis and metabolic muscle disorders v3.48	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235 Tags
Green Green List (high evidence)	ORAI1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Expert Review Phenotypes Myopathy, tubular aggregate, 2, 615883 Tags
Green Green List (high evidence)	ORAI1 Congenital myopathy v4.37	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert UKGTN Phenotypes Myopathy, tubular aggregate, 2, OMIM:615883 Tags missense
Green Green List (high evidence)	PAX7 Congenital myopathy v4.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes Myopathy, congenital, progressive, with scoliosis, OMIM:618578 Tags
Green Green List (high evidence)	PFKM Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Glycogen storage disease VII, 232800 Tags
Green Green List (high evidence)	PFKM Rhabdomyolysis and metabolic muscle disorders v3.48	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 Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Glycogen storage disease X 261670 Tags
Green Green List (high evidence)	PGK1 Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Phosphoglycerate kinase 1 deficiency 300653 Tags
Green Green List (high evidence)	PGM1 Rhabdomyolysis and metabolic muscle disorders v3.48	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 Congenital disorder of glycosylation, type It 614921 Tags
Green Green List (high evidence)	PHKA1 Rhabdomyolysis and metabolic muscle disorders v3.48	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 Illumina TruGenome Clinical Sequencing Services Literature UKGTN Phenotypes Muscle glycogenosis 300559 Tags
Green Green List (high evidence)	PHKA1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Muscle glycogenosis, 300559 Tags
Green Green List (high evidence)	PIEZO2 Congenital myopathy v4.37	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Expert Review Phenotypes Arthrogryposis, distal, type 3, OMIM:114300: Arthrogryposis, distal, type 5, OMIM:108145: Arthrogryposis, distal, with proprioception and touch, OMIM:617146 Tags
Green Green List (high evidence)	PLEC Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723 Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 Tags
Green Green List (high evidence)	PLEC Congenital muscular dystrophy v4.23	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723 Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 Tags
Green Green List (high evidence)	PLEC Congenital myaesthenic syndrome v4.5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Literature Phenotypes Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 Tags monogenic-polygenic
Green Green List (high evidence)	POLG Rhabdomyolysis and metabolic muscle disorders v3.48	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Literature Phenotypes Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640 Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450 Tags
Green Green List (high evidence)	POLG2 Rhabdomyolysis and metabolic muscle disorders v3.48	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Literature Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131 Tags
Green Green List (high evidence)	POMGNT1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	POMGNT1 Congenital muscular dystrophy v4.23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3, OMIM:613151 Tags
Green Green List (high evidence)	POMGNT2 Congenital muscular dystrophy v4.23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830 Tags
Green Green List (high evidence)	POMGNT2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Congenital muscular dystrophy v4.23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249 Tags
Green Green List (high evidence)	POMT1 Congenital muscular dystrophy v4.23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1, OMIM:613155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, OMIM:609308 Tags
Green Green List (high evidence)	POMT1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Congenital muscular dystrophy v4.23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, OMIM:613150 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, OMIM:613156 Tags
Green Green List (high evidence)	POMT2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	PRKAG2 Rhabdomyolysis and metabolic muscle disorders v3.48	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources UKGTN Literature Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Cardiomyopathy, hypertrophic 6 600858 Glycogen storage disease of heart, lethal congenital 261740 Wolff-Parkinson-White syndrome 194200 Tags
Green Green List (high evidence)	PYGM Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes McArdle disease, 232600 Tags
Green Green List (high evidence)	PYGM Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Glycogen storage disease V McArdle disease 232600 AR Tags
Green Green List (high evidence)	PYROXD1 Congenital myopathy v4.37	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Myopathy, myofibrillar, 8, OMIM:617258 Tags
Green Green List (high evidence)	RAPSN Congenital myaesthenic syndrome v4.5	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326 Tags
Green Green List (high evidence)	RBCK1 Rhabdomyolysis and metabolic muscle disorders v3.48	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 Tags
Green Green List (high evidence)	RRM2B Rhabdomyolysis and metabolic muscle disorders v3.48	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Literature UKGTN 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 Congenital myopathy v4.37	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Phenotypes Central core disease, OMIM:117000 Neuromuscular disease, congenital, with uniform type 1 fiber, OMIM:117000 Minicore myopathy with external ophthalmoplegia, OMIM:255320 King-Denborough syndrome, OMIM:619542 Tags pharmacogenetics treatable
Green Green List (high evidence)	RYR1 Rhabdomyolysis and metabolic muscle disorders v3.48	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 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 Central core disease, 117000 congenital myopathy malignant hyperthermia Tags
Green Green List (high evidence)	RYR3 Congenital myopathy v4.37	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Phenotypes Congenital myopathy 20, OMIM:620310 Nemaline myopathy, MONDO:0018958 Tags
Green Green List (high evidence)	SCN4A Congenital myaesthenic syndrome v4.5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Myasthenic syndrome, congenital, 16, OMIM:614198 Tags
Green Green List (high evidence)	SCN4A Congenital myopathy v4.37	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Congenital myopathy, MONDO:0019952 Tags
Green Green List (high evidence)	SCN4A Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes SCN4A-related muscle disorders Tags
Green Green List (high evidence)	SELENON Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Muscular dystrophy, rigid spine, 1, OMIM:602771 Tags
Green Green List (high evidence)	SELENON Congenital muscular dystrophy v4.23	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 Congenital myopathy v4.37	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy, rigid spine, 1, OMIM:602771 Tags
Green Green List (high evidence)	SGCA Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Muscular dystrophy, limb-girdle, type 2D, 608099 Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	SGCA Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099 Tags
Green Green List (high evidence)	SGCB Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Rhabdomyolysis and metabolic muscle disorders v3.48	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Marinesco-Sjogren syndrome 248800 Tags
Green Green List (high evidence)	SIL1 Congenital muscular dystrophy v4.23	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Marinesco-Sjogren syndrome, OMIM:248800 Tags
Green Green List (high evidence)	SLC18A3 Congenital myaesthenic syndrome v4.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Eligibility statement prior genetic testing Phenotypes Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239 Tags
Green Green List (high evidence)	SLC22A5 Rhabdomyolysis and metabolic muscle disorders v3.48	1 review 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 Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919 Tags
Green Green List (high evidence)	SLC25A1 Congenital myaesthenic syndrome v4.5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Myasthenic syndrome, congenital, 23, presynaptic, OMIM:618197 Tags
Green Green List (high evidence)	SLC25A4 Congenital myopathy v4.37	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184 Tags
Green Green List (high evidence)	SLC52A2 Paediatric motor neuronopathies v3.6	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list UKGTN Radboud University Medical Center, Nijmegen Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867 Hereditary sensory and autonomic neuropathy, MONDO:0015364 Tags treatable
Green Green List (high evidence)	SLC52A3 Paediatric motor neuronopathies v3.6	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Brown-Vialetto-Van Laere syndrome 1, OMIM:211530 Tags
Green Green List (high evidence)	SLC5A7 Congenital myaesthenic syndrome v4.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Eligibility statement prior genetic testing Phenotypes Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143 Tags
Green Green List (high evidence)	SMN1 Paediatric motor neuronopathies v3.6	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Spinal muscular atrophy 1, OMIM:253300 Spinal muscular atrophy 2, OMIM:253550 Spinal muscular atrophy 3, OMIM:253400 Spinal muscular atrophy 4, OMIM:271150 Tags cnv gene-therapy-trial
Green Green List (high evidence)	SPEG Congenital myopathy v4.37	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Literature Phenotypes Centronuclear myopathy 5, OMIM:615959 Tags
Green Green List (high evidence)	SPG11 Paediatric motor neuronopathies v3.6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099 Tags
Green Green List (high evidence)	SQSTM1 Distal myopathies v3.17	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 Congenital myopathy v4.37	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Myopathy, congenital, Baily-Bloch, OMIM:255995 Tags
Green Green List (high evidence)	STIM1 Congenital myopathy v4.37	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert UKGTN Radboud University Medical Center, Nijmegen Phenotypes Myopathy, tubular aggregate, 1, OMIM:160565 Tags missense
Green Green List (high evidence)	STIM1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Expert Review Phenotypes Myopathy, tubular aggregate, 1, 160565 Tags
Green Green List (high evidence)	SUCLA2 Rhabdomyolysis and metabolic muscle disorders v3.48	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 Tags
Green Green List (high evidence)	SYNE1 Congenital muscular dystrophy v4.23	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant, OMIM:612998 Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484 Tags
Green Green List (high evidence)	SYNE1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 Tags
Green Green List (high evidence)	SYNE2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	8 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH Radboud University Medical Center, Nijmegen Phenotypes Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999 Tags
Green Green List (high evidence)	SYT2 Congenital myaesthenic syndrome v4.5	6 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Radboud University Medical Center, Nijmegen Phenotypes Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040 Tags
Green Green List (high evidence)	TANGO2 Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878 Tags
Green Green List (high evidence)	TCAP Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Distal myopathies v3.17	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 Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Literature UKGTN Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Tags
Green Green List (high evidence)	TMEM5 Congenital muscular dystrophy v4.23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041 Tags new-gene-name
Green Green List (high evidence)	TNNC2 Congenital myopathy v4.37	7 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London South GLH Phenotypes Myopathy, congenital, with neonatal respiratory insufficiency, OMIM:620161 Tags
Green Green List (high evidence)	TNNI2 Congenital myopathy v4.37	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London South GLH Expert UKGTN Phenotypes Arthrogryposis, distal, type 2B1, OMIM:601680 Tags
Green Green List (high evidence)	TNNT1 Congenital myopathy v4.37	6 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes Nemaline myopathy 5, Amish type, OMIM:605355 Tags Q2_23_MOI Q2_23_NHS_review
Green Green List (high evidence)	TNNT3 Congenital myopathy v4.37	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London South GLH Expert UKGTN Phenotypes Arthrogryposis, distal, type 2B2, OMIM:618435 Tags
Green Green List (high evidence)	TNPO3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Expert Review Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 Tags
Green Green List (high evidence)	TOR1AIP1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072 Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900 Tags
Green Green List (high evidence)	TPM2 Congenital myopathy v4.37	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes CAP myopathy 2, OMIM:609285 Nemaline myopathy 4, autosomal dominant, OMIM:609285 Tags Q2_23_MOI Q2_23_NHS_review watchlist_moi
Green Green List (high evidence)	TPM3 Congenital myopathy v4.37	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes CAP myopathy 1, OMIM:609284 Myopathy, congenital, with fiber-type disproportion, OMIM:255310 Nemaline myopathy 1, autosomal dominant or recessive, OMIM:609284 Tags
Green Green List (high evidence)	TRAPPC11 Congenital muscular dystrophy v4.23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356 Tags
Green Green List (high evidence)	TRAPPC11 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, type 2S, 615356 Tags
Green Green List (high evidence)	TRIM32 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Congenital myopathy v4.37	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066 Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866 Tags
Green Green List (high evidence)	TRIP4 Paediatric motor neuronopathies v3.6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866 Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209 Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806 Tags
Green Green List (high evidence)	TRPV4 Paediatric motor neuronopathies v3.6	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Distal Congenital Nonprogressive Spinal Muscular Atrophy Brachyolmia type 3, OMIM:113500 Tags
Green Green List (high evidence)	TSFM Rhabdomyolysis and metabolic muscle disorders v3.48	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Combined oxidative phosphorylation deficiency 3 610505 Tags
Green Green List (high evidence)	TTN Congenital myopathy v4.37	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Salih myopathy, OMIM:611705 Tags
Green Green List (high evidence)	TTN Distal myopathies v3.17	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Tibial muscular dystrophy, tardive, 600334 Tags
Green Green List (high evidence)	TTN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	8 reviews 3 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy, limb-girdle, type 2J, 608807 Limb girdle muscular dystrophy Distal myopathy Myofibrillar myopathy Congenital myopathy dilated cardiomyopathy HMERF arthrogryposis Tags
Green Green List (high evidence)	TYMP Rhabdomyolysis and metabolic muscle disorders v3.48	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Literature Illumina TruGenome Clinical Sequencing Services Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041 Tags
Green Green List (high evidence)	UBA1 Paediatric motor neuronopathies v3.6	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830 Tags
Green Green List (high evidence)	VAMP1 Congenital myaesthenic syndrome v4.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Literature Phenotypes Myasthenic syndrome, congenital, 25, OMIM:618323 Tags
Green Green List (high evidence)	VCP Distal myopathies v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 Tags
Green Green List (high evidence)	VCP Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320 Tags
Green Green List (high evidence)	VMA21 Congenital myopathy v4.37	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Myopathy, X-linked, with excessive autophagy, OMIM:310440 Tags
Green Green List (high evidence)	VMA21 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myopathy, X-linked, with excessive autophagy, 310440 X-Linked myopathy with excessive autophagy Tags
Green Green List (high evidence)	VRK1 Paediatric motor neuronopathies v3.6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Pontocerebellar hypoplasia type 1A, OMIM:607596 Tags
Amber Amber List (moderate evidence)	ABHD5 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Chanarin-Dorfman syndrome, OMIM:275630 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	ABHD5 Rhabdomyolysis and metabolic muscle disorders v3.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Chanarin-Dorfman syndrome, OMIM:275630 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	ACTA1 Congenital muscular dystrophy v4.23	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes CMD with rigid spine Nemaline myopathy 3, autosomal dominant or recessive 161800 Myopathy, congenital, with fiber-type disproportion 1 255310 Tags
Amber Amber List (moderate evidence)	ACTN2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Myopathy, distal, 6, adult onset, OMIM:618655 Tags Q2_23_promote_green watchlist_moi
Amber Amber List (moderate evidence)	ALS2 Paediatric motor neuronopathies v3.6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100 Spastic paralysis, infantile onset ascending, OMIM:607225 Tags
Amber Amber List (moderate evidence)	ASCC1 Congenital myopathy v4.37	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spinal muscular atrophy with congenital bone fractures 2, OMIM:616867 Tags Q1_23_NHS_review Q1_23_promote_green
Amber Amber List (moderate evidence)	ATP7A Paediatric motor neuronopathies v3.6	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert Radboud University Medical Center, Nijmegen Phenotypes Menkes disease, OMIM:309400 Occipital horn syndrome, OMIM:304150 Spinal muscular atrophy, distal, X-linked 3, OMIM:300489 Tags
Amber Amber List (moderate evidence)	BET1 Congenital muscular dystrophy v4.23	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS London South GLH Phenotypes Congenital muscular dystrophy, MONDO:0019950 Tags Q1_23_NHS_review Q4_22_promote_green
Amber Amber List (moderate evidence)	BVES Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	8 reviews 3 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS South West GLH Literature Phenotypes Muscular dystrophy, limb-girdle, type 2X, 616812 limb girdle muscular dystrophy cardiac arrhythmia Tags Q2_23_promote_green
Amber Amber List (moderate evidence)	CASQ1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS Expert Review Phenotypes Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 Tags Q2_23_promote_green
Amber Amber List (moderate evidence)	CNBP_CCTG STR Distal myopathies v3.17	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Expert list Phenotypes Myotonic dystrophy 2, OMIM:602668 Myotonic dystrophy type 2, MONDO:0011266 Tags Q1_24_promote_green STR
Amber Amber List (moderate evidence)	CNTN1 Congenital myopathy v4.37	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Myopathy, congenital, Compton-North, OMIM:612540 Tags watchlist
Amber Amber List (moderate evidence)	COL13A1 Congenital myopathy v4.37	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myasthenic syndrome, congenital, 19, OMIM:616720 Tags Q1_23_NHS_review Q1_23_promote_green treatable
Amber Amber List (moderate evidence)	COL25A1 Congenital myopathy v4.37	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Research Expert Review Literature Expert list Phenotypes Arthrogryposis multiplex congenita with or without ocular congenital cranial dysinnervation disorder Tags Q1_23_NHS_review Q1_23_promote_green
Amber Amber List (moderate evidence)	COL4A1 Congenital muscular dystrophy v4.23	7 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS London South GLH Expert Review Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, MONDO:0012726 Tags Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	DHX16 Congenital myopathy v4.37	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733 Tags
Amber Amber List (moderate evidence)	DNAJB4 Congenital myopathy v4.37	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes congenital myopathy with early respiratory failure Tags Q1_23_NHS_review Q1_23_promote_green
Amber Amber List (moderate evidence)	DPM1 Congenital muscular dystrophy v4.23	7 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Amber Emory Genetics Laboratory Phenotypes Congenital disorder of glycosylation, type Ie, OMIM:608799 Tags watchlist
Amber Amber List (moderate evidence)	DPM3 Congenital muscular dystrophy v4.23	9 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS London South GLH Emory Genetics Laboratory Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937 ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992 Tags Q1_23_NHS_review Q1_23_promote_green
Amber Amber List (moderate evidence)	DPM3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937 DPM3-congenital disorder of glycosylation, MONDO:0013049 ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15, MONDO:0033556 Tags Q4_22_promote_green
Amber Amber List (moderate evidence)	DTNA Congenital muscular dystrophy v4.23	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes muscular dystrophy, MONDO:0020121 Tags Q1_23_NHS_review Q1_23_promote_green
Amber Amber List (moderate evidence)	DYSF Congenital muscular dystrophy v4.23	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Miyoshi muscular dystrophy 1, OMIM:254130 Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601 Myopathy, distal, with anterior tibial onset, OMIM:606768 Tags
Amber Amber List (moderate evidence)	EMD Congenital muscular dystrophy v4.23	6 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, OMIM:310300 Tags Q2_23_expert_review Q2_23_NHS_review Q2_23_promote_green
Amber Amber List (moderate evidence)	EXOSC8 Paediatric motor neuronopathies v3.6	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature UKGTN Phenotypes Pontocerebellar hypoplasia, type 1C, OMIM:616081 neuronopathy, distal hereditary motor, MONDO:0000075 Tags
Amber Amber List (moderate evidence)	FLNC Congenital myopathy v4.37	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Myopathy, distal, 4, OMIM:614065 Myopathy, myofibrillar, 5, OMIM:609524 Tags
Amber Amber List (moderate evidence)	GBE1 Congenital myopathy v4.37	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Literature Phenotypes arthrogryposis multiplex congenita foetal akinesias fetal akinesia deformation sequence severe congenital myopathy multiple pterygium syndrome Tags Q1_23_NHS_review Q1_23_promote_green
Amber Amber List (moderate evidence)	GFER Congenital myopathy v4.37	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076 Tags to_be_confirmed_NHSE
Amber Amber List (moderate evidence)	GOLGA2 Congenital muscular dystrophy v4.23	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS London South GLH Phenotypes Developmental delay with hypotonia, myopathy, and brain abnormalities, OMIM:620240 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	GOSR2 Congenital muscular dystrophy v4.23	6 reviews 4 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS London South GLH Phenotypes Muscular dystrophy, congenital, with or without seizures, OMIM:620166 Tags Q1_23_NHS_review Q4_22_promote_green
Amber Amber List (moderate evidence)	HMGCR Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 28, OMIM:620375 Tags Q3_23_MOI Q3_23_promote_green
Amber Amber List (moderate evidence)	HSPB1 Paediatric motor neuronopathies v3.6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Phenotypes Neuropathy, distal hereditary motor, type IIB, OMIM:608634 Charcot-Marie-Tooth disease, axonal, type 2F, OMIM:606595 Tags
Amber Amber List (moderate evidence)	HSPB8 Paediatric motor neuronopathies v3.6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Phenotypes Neuropathy, distal hereditary motor, type IIA, OMIM:158590 Tags
Amber Amber List (moderate evidence)	KY Congenital myopathy v4.37	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber UCL Phenotypes Myopathy, myofibrillar, 7, OMIM:617114 Tags Q1_23_NHS_review Q1_23_promote_green
Amber Amber List (moderate evidence)	LAMP2 Congenital myopathy v4.37	4 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS London South GLH Expert Review Amber Expert Review Phenotypes Danon disease, OMIM:300257 Tags
Amber Amber List (moderate evidence)	LETM1 Congenital myopathy v4.37	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 Tags Q3_23_MOI Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	LRIF1 Distal myopathies v3.17	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Facioscapulohumeral muscular dystrophy Tags
Amber Amber List (moderate evidence)	LRIF1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Facioscapulohumeral muscular dystrophy Tags
Amber Amber List (moderate evidence)	MLIP Congenital myopathy v4.37	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, OMIM:620138 Tags Q4_22_promote_green
Amber Amber List (moderate evidence)	MTMR14 Congenital myopathy v4.37	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Amber Expert Review Phenotypes {Centronuclear myopathy, autosomal, modifier of}, OMIM:160150 Tags watchlist
Amber Amber List (moderate evidence)	MYBPC3 Congenital myopathy v4.37	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Amber Expert Review Phenotypes Cardiomyopathy, dilated, 1MM, OMIM:615396 Cardiomyopathy, hypertrophic, 4, OMIM:115197 Tags watchlist
Amber Amber List (moderate evidence)	MYF5 Congenital myopathy v4.37	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert list Phenotypes Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155 Tags
Amber Amber List (moderate evidence)	MYH1 Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes rhabdomyolysis, MONDO:0005290 Tags
Amber Amber List (moderate evidence)	NEFL Congenital myopathy v4.37	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber UCL Phenotypes Nemaline Myopathy Tags watchlist
Amber Amber List (moderate evidence)	PNPLA2 Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neutral lipid storage disease with myopathy, OMIM:610717 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	PNPLA2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neutral lipid storage disease with myopathy, OMIM:610717 Tags Q2_23_promote_green
Amber Amber List (moderate evidence)	POGLUT1 Congenital muscular dystrophy v4.23	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS London South GLH Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232 autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977 Tags Q4_22_NHS_review Q4_22_promote_green
Amber Amber List (moderate evidence)	POGLUT1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Expert list Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232 autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977 Tags Q1_23_promote_green
Amber Amber List (moderate evidence)	POPDC3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848 muscular dystrophy, limb-girdle, autosomal recessive 26, MONDO:0030014 Tags Q1_24_NHS_review Q1_24_promote_green
Amber Amber List (moderate evidence)	PPA2 Congenital myopathy v4.37	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Expert Review Phenotypes Sudden cardiac failure, infantile, OMIM:617222 Tags
Amber Amber List (moderate evidence)	PYROXD1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Myopathy, myofibrillar, 8, 617258 adult-onset limb girdle muscular dystrophy Tags Q2_23_promote_green
Amber Amber List (moderate evidence)	PYROXD1 Congenital muscular dystrophy v4.23	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes muscular dystrophy Tags Q2_23_NHS_review Q2_23_promote_green
Amber Amber List (moderate evidence)	REEP1 Paediatric motor neuronopathies v3.6	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, OMIM:614751 Tags
Amber Amber List (moderate evidence)	SETX Paediatric motor neuronopathies v3.6	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 Tags
Amber Amber List (moderate evidence)	SLC25A42 Congenital myopathy v4.37	5 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416 Tags watchlist
Amber Amber List (moderate evidence)	SMCHD1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	7 reviews 4 green 1 red	Other - please specifiy in evaluation comments	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS South West GLH Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901 facioscapulohumeral muscular dystrophy 2, MONDO:0008031 Tags digenic Q1_24_MOI Q1_24_NHS_review Q1_24_promote_green
Amber Amber List (moderate evidence)	SMPX Distal myopathies v3.17	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Myopathy, distal, 7, adult-onset, X-linked, OMIM:301075 myopathy, distal, 7, adult-onset, X-linked, MONDO:0024771 Tags Q3_23_MOI Q3_23_promote_green
Amber Amber List (moderate evidence)	SPTBN4 Congenital myopathy v4.37	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519 Tags Q1_23_promote_green
Amber Amber List (moderate evidence)	SVIL Congenital myopathy v4.37	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myofibrillar myopathy 10, OMIM:619040 Tags watchlist
Amber Amber List (moderate evidence)	TAMM41 Rhabdomyolysis and metabolic muscle disorders v3.48	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 56, OMIM:620139 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	TCAP Congenital muscular dystrophy v4.23	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Emory Genetics Laboratory Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954 Tags
Amber Amber List (moderate evidence)	TOR1AIP1 Congenital myaesthenic syndrome v4.5	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072 Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900 Tags Q4_22_promote_green
Amber Amber List (moderate evidence)	TRDN Congenital myopathy v4.37	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert list Phenotypes Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, OMIM:615441 Tags Q2_23_NHS_review Q2_23_promote_green
Amber Amber List (moderate evidence)	UNC45B Congenital myopathy v4.37	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myofibrillar myopathy 11, OMIM:619178 Tags Q4_22_expert_review Q4_22_NHS_review Q4_22_promote_green
Amber Amber List (moderate evidence)	VAPB Paediatric motor neuronopathies v3.6	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980 Amyotrophic lateral sclerosis 8, OMIM:608627 Tags
Amber Amber List (moderate evidence)	VWA1 Congenital myopathy v4.37	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216 neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977 Tags Q1_24_expert_review Q1_24_promote_green
Amber Amber List (moderate evidence)	ZC4H2 Congenital myopathy v4.37	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber NHS GMS London South GLH Phenotypes Wieacker-Wolff syndrome, OMIM:314580 Wieacker-Wolff syndrome, female-restricted, OMIM:301041 Tags Q2_23_NHS_review Q2_23_promote_green
Red Red List (low evidence)	AARS Paediatric motor neuronopathies v3.6	4 reviews 2 red	Not set	Sources Expert Review Red Expert Tags new-gene-name
Red Red List (low evidence)	ACTA1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Glycogen storage disease IIIb, 232400 Glycogen storage disease IIIc, 232400 Tags
Red Red List (low evidence)	ANO5 Congenital muscular dystrophy v4.23	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Miyoshi muscular dystrophy 3, OMIM:613319 Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307 Tags
Red Red List (low evidence)	AR Paediatric motor neuronopathies v3.6	7 reviews 2 green 1 red	Other	Sources Expert Review Red NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATP2A1 Congenital myopathy v4.37	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Brody myopathy, OMIM:601003 Tags
Red Red List (low evidence)	ATP2A1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Congenital myopathy v4.37	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, myofibrillar, 6, OMIM:612954 Tags
Red Red List (low evidence)	BSCL2 Paediatric motor neuronopathies v3.6	2 reviews 1 green	Not set	Sources Expert Review Red Expert Tags
Red Red List (low evidence)	CACNA1A Congenital myaesthenic syndrome v4.5	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Lambert-Eaton myasthenic syndrome, MONDO:0018556 Tags
Red Red List (low evidence)	CASQ1 Congenital myopathy v4.37	6 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS London South GLH UCL Phenotypes Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 Tags
Red Red List (low evidence)	CAV3 Congenital myopathy v4.37	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myopathy, distal, Tateyama type, OMIM:614321 Tags
Red Red List (low evidence)	CHCHD10 Congenital myopathy v4.37	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, OMIM:615911 Spinal muscular atrophy, Jokela type, OMIM:615048 Tags adult-onset
Red Red List (low evidence)	CHRND Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Distal myopathies v3.17	3 reviews 1 green 1 red	Other	Sources NHS GMS Expert Review Red Expert Review Phenotypes Myotonic dystrophy 2, OMIM:602668 Myotonic dystrophy type 2, MONDO:0011266 Tags nucleotide-repeat-expansion
Red Red List (low evidence)	COL12A1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Congenital muscular dystrophy v4.23	4 reviews 2 red	Unknown	Sources NHS GMS London South GLH Expert Review Red Expert Review Tags
Red Red List (low evidence)	COL9A3 Congenital myopathy v4.37	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969 Tags
Red Red List (low evidence)	COLQ Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Rhabdomyolysis and metabolic muscle disorders v3.48	1 review	Not set	Sources UKGTN Tags
Red Red List (low evidence)	CPT2 Congenital myopathy v4.37	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes CPT II deficiency, infantile, OMIM:600649 CPT II deficiency, lethal neonatal, OMIM:608836 Tags
Red Red List (low evidence)	CRYAB Congenital myopathy v4.37	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, myofibrillar, 2, OMIM:608810 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 Tags
Red Red List (low evidence)	CYP2C8 Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 1 green	Unknown	Sources Radboud University Medical Center, Nijmegen Phenotypes {Drug metabolism, altered, CYP2C8-related}, OMIM:618018 Rhabdomyolysis, cerivastatin-induced Tags pharmacogenetics
Red Red List (low evidence)	DCTN1 Paediatric motor neuronopathies v3.6	1 review	Not set	Sources Expert Review Red Expert Tags
Red Red List (low evidence)	DES Congenital myopathy v4.37	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Myopathy, myofibrillar, 1, OMIM:601419 Scapuloperoneal syndrome, neurogenic, Kaeser type, OMIM:181400 Tags
Red Red List (low evidence)	DMD Distal myopathies v3.17	1 review	Not set	Sources Expert Review Red Eligibility statement prior genetic testing Tags Skewed X-inactivation
Red Red List (low evidence)	DMPK Paediatric motor neuronopathies v3.6	3 reviews 1 red	Other	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	DMPK Congenital myopathy v4.37	4 reviews 1 green 2 red	Other	Sources Expert Review Red UKGTN Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	DMPK Distal myopathies v3.17	2 reviews 1 green	Other	Sources Expert Review Red Eligibility statement prior genetic testing Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	DMPK_CTG STR Paediatric motor neuronopathies v3.6	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Red Expert list Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags STR
Red Red List (low evidence)	DNAJB2 Paediatric motor neuronopathies v3.6	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 Congenital myopathy v4.37	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 1, OMIM:603511 Tags
Red Red List (low evidence)	DNM2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Distal myopathies v3.17	1 review	Not set	Sources Expert Review Red Eligibility statement prior genetic testing Phenotypes FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A) Tags
Red Red List (low evidence)	DUX4 Congenital muscular dystrophy v4.23	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources UKGTN Phenotypes Facioscapulohumeral Muscular Dystrophy 1A Tags cnv currently-ngs-unreportable treatable
Red Red List (low evidence)	DYSF Congenital myopathy v4.37	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Miyoshi muscular dystrophy 1 254130 Muscular dystrophy, limb-girdle, type 2B 253601 Myopathy, distal, with anterior tibial onset 606768 Tags
Red Red List (low evidence)	ETFDH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Congenital myopathy v4.37	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, OMIM:615704 Tags
Red Red List (low evidence)	FBP2 Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 2 red	Not set	Sources UKGTN Tags
Red Red List (low evidence)	FBXO38 Paediatric motor neuronopathies v3.6	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 Congenital myopathy v4.37	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Red Expert Review Phenotypes Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717 Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 Tags
Red Red List (low evidence)	FKTN Rhabdomyolysis and metabolic muscle disorders v3.48	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Literature UKGTN Phenotypes Fukuyama congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 Tags
Red Red List (low evidence)	GARS Paediatric motor neuronopathies v3.6	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 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Glycogen storage disease IV, OMIM:232500 Tags
Red Red List (low evidence)	GFPT1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 Congenital myasthenic syndrome Tags
Red Red List (low evidence)	GIPC1 Distal myopathies v3.17	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Oculopharyngodistal myopathy 2, OMIM:618940 oculopharyngodistal myopathy 2, MONDO:0030134 Tags STR
Red Red List (low evidence)	GNE Congenital myopathy v4.37	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Nonaka myopathy, OMIM:605820 Tags
Red Red List (low evidence)	GYG1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Congenital myopathy v4.37	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424 Tags
Red Red List (low evidence)	HRAS Congenital myopathy v4.37	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Costello syndrome, OMIM:218040 Congenital myopathy with excess of muscle spindles, OMIM:218040 Tags
Red Red List (low evidence)	HSPB3 Paediatric motor neuronopathies v3.6	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 Congenital myopathy v4.37	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Literature Phenotypes 3-methylglutaconic aciduria, type VIII, OMIM:617248 Tags
Red Red List (low evidence)	ISCU Congenital myopathy v4.37	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myopathy with lactic acidosis, hereditary, OMIM:255125 Tags
Red Red List (low evidence)	KLHL9 Distal myopathies v3.17	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 Congenital myopathy v4.37	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 Congenital myaesthenic syndrome v4.5	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 Congenital myaesthenic syndrome v4.5	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 Congenital myopathy v4.37	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Myopathy, myofibrillar, 4, OMIM:609452 Tags
Red Red List (low evidence)	LGI4 Congenital myopathy v4.37	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Literature Other Phenotypes Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468 Tags
Red Red List (low evidence)	LIMS2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Congenital myopathy v4.37	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Amyotrophic lateral sclerosis 21, OMIM:606070 Tags adult-onset
Red Red List (low evidence)	MEG3 Paediatric motor neuronopathies v3.6	2 reviews	Not set	Sources Expert Review Red Tags locus-type-rna-long-non-coding
Red Red List (low evidence)	MT-TL1 Congenital myopathy v4.37	2 reviews 2 red	MITOCHONDRIAL	Sources Expert Review Red UKGTN Phenotypes MELAS syndrome, MONDO:0010789 Tags
Red Red List (low evidence)	MYF6 Congenital myopathy v4.37	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Centronuclear Myopathy, Dominant Tags
Red Red List (low evidence)	MYH14 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Congenital myopathy v4.37	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, OMIM:614369 Tags
Red Red List (low evidence)	MYH8 Congenital myopathy v4.37	7 reviews 2 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS London South GLH Expert UKGTN Phenotypes Trismus-pseudocamptodactyly syndrome, OMIM:158300 Tags
Red Red List (low evidence)	MYMK Congenital muscular dystrophy v4.23	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Literature Phenotypes Carey-Fineman-Ziter syndrome, OMIM:254940 Carey-Fineman-Ziter syndrome, MONDO:0009700 Tags
Red Red List (low evidence)	MYOT Congenital myopathy v4.37	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Myopathy, myofibrillar, 3, OMIM:609200 Myopathy, spheroid body, OMIM:182920 Tags
Red Red List (low evidence)	NEB Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Nemaline myopathy 2, autosomal recessive, 256030 congenital myopathy Tags
Red Red List (low evidence)	PABPN1 Congenital muscular dystrophy v4.23	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Oculopharyngeal muscular dystrophy, OMIM:164300 Tags nucleotide-repeat-expansion
Red Red List (low evidence)	PGK1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Phosphoglycerate kinase 1 deficiency, 300653 Tags
Red Red List (low evidence)	PHKB Rhabdomyolysis and metabolic muscle disorders v3.48	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Literature Phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 Tags
Red Red List (low evidence)	PHKG1 Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 2 red	Not set	Sources UKGTN Tags
Red Red List (low evidence)	PLEKHG5 Paediatric motor neuronopathies v3.6	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 Congenital myopathy v4.37	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Neutral lipid storage disease with myopathy, OMIM:610717 Tags
Red Red List (low evidence)	POLG Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	7 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Yorkshire and North East GLH NHS GMS South West GLH Radboud University Medical Center, Nijmegen Phenotypes ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094 limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101 Tags
Red Red List (low evidence)	PREPL Congenital myaesthenic syndrome v4.5	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 Congenital myopathy v4.37	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, OMIM:600462 Tags
Red Red List (low evidence)	RAPSN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Congenital myopathy v4.37	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 Tags
Red Red List (low evidence)	RYR1 Congenital muscular dystrophy v4.23	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 Congenital myaesthenic syndrome v4.5	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 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Paediatric motor neuronopathies v3.6	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 Rhabdomyolysis and metabolic muscle disorders v3.48	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Hypouricemia, renal 220150 Tags
Red Red List (low evidence)	SLC2A9 Rhabdomyolysis and metabolic muscle disorders v3.48	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 Paediatric motor neuronopathies v3.6	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Tags
Red Red List (low evidence)	SLC5A7 Paediatric motor neuronopathies v3.6	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red UKGTN Literature Phenotypes Neuronopathy, distal hereditary motor, type VIIA 158580 Tags
Red Red List (low evidence)	SMCHD1 Congenital muscular dystrophy v4.23	2 reviews 1 red	Other	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901 Tags
Red Red List (low evidence)	SMN1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Yorkshire and North East GLH NHS GMS Expert Review Phenotypes Spinal muscular atrophy-4, 271150 Tags
Red Red List (low evidence)	SNAP25 Congenital myaesthenic syndrome v4.5	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 Paediatric motor neuronopathies v3.6	4 reviews 1 red	Other - please specifiy in evaluation comments	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Prader-Willi syndrome, OMIM:176270 Tags currently-ngs-unreportable
Red Red List (low evidence)	SRPK3 Congenital myopathy v4.37	3 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS London South GLH Phenotypes Nemaline myopathy, MONDO:0018958 Tags
Red Red List (low evidence)	STIM2 Congenital myopathy v4.37	2 reviews 1 red	Unknown	Sources Expert Review Red UKGTN Tags
Red Red List (low evidence)	SYNE2 Congenital muscular dystrophy v4.23	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999 Tags
Red Red List (low evidence)	SYT15 Congenital myaesthenic syndrome v4.5	2 reviews 1 red	Not set	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Tags
Red Red List (low evidence)	SYT2 Paediatric motor neuronopathies v3.6	2 reviews	Not set	Sources Expert Review Red Expert Tags
Red Red List (low evidence)	TIA1 Congenital myopathy v4.37	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Welander distal myopathy, OMIM:604454 Tags
Red Red List (low evidence)	TMEM43 Congenital muscular dystrophy v4.23	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Emery-Dreifuss muscular dystrophy 7, AD, OMIM:614302 Tags
Red Red List (low evidence)	TNNT3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Arthrogryposis, distal, type 2B2, OMIM:618435 Arthrogryposis, distal, type 2B2, MONDO:0032750 Tags
Red Red List (low evidence)	TPM2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	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 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes CAP myopathy 1, 609284 Nemaline myopathy 1, autosomal dominant or recessive, 609284 Nemaline myopathy congenital myopathy Tags
Red Red List (low evidence)	TSEN54 Rhabdomyolysis and metabolic muscle disorders v3.48	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red UKGTN Literature Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Pontocerebellar hypoplasia type 2A, OMIM:277470 Tags
Red Red List (low evidence)	UBQLN1 Paediatric motor neuronopathies v3.6	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 Congenital myaesthenic syndrome v4.5	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Tags
Red Red List (low evidence)	VCP Congenital myopathy v4.37	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, OMIM:167320 Tags adult-onset
Red Red List (low evidence)	VPS33B Congenital myopathy v4.37	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London South GLH Expert Review Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085 Tags
Red Red List (low evidence)	YARS2 Congenital myopathy v4.37	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, OMIM:613561 Tags

Major version comments

2019-01-08 18:36 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
Checked against super panel made up of the panel constituents. Ready to promote to version 1

Other rare neuromuscular disorders (Version 19.202)

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