This Panel has been signed off for the GMS

Neuromuscular disorders (Version 5.51)

Relevant disorders: Other rare neuromuscular disorders, R381
This panel contains these 7 panels:
Limb girdle muscular dystrophy v2.6
Congenital myopathy v2.5
Congenital myaesthenic syndrome v2.5
Congenital muscular dystrophy v2.4
Rhabdomyolysis and metabolic muscle disorders v1.42
Paediatric motor neuronopathies v1.32
Distal myopathies v1.20
Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Panel version 5.43 has been signed off on 4 Mar 2020

Description

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

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

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

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

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

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

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

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

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

428 Entities

420 reviewed, 274 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 428 Entitiess
Green Green List (high evidence)	ACAD9 Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Literature Emory Genetics Laboratory Phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 Tags
Green Green List (high evidence)	ACADM Rhabdomyolysis and metabolic muscle disorders v1.42	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 Limb girdle muscular dystrophy v2.6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes VLCAD deficiency, 201475 metabolic myopathy rhabdomyolsis Tags
Green Green List (high evidence)	ACADVL Rhabdomyolysis and metabolic muscle disorders v1.42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes VLCAD deficiency 201475 Tags
Green Green List (high evidence)	ACTA1 Distal myopathies v1.20	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Nemaline myopathy 3, 161800 Tags
Green Green List (high evidence)	ACTA1 Congenital myopathy v2.5	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Myopathy, actin, congenital, with cores Myopathy, actin, congenital, with excess of thin myofilaments Myopathy, congenital, with fiber-type disproportion 1 Nemaline myopathy 3 Tags
Green Green List (high evidence)	ACTN2 Congenital myopathy v2.5	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London South GLH Phenotypes Multiple structured Core Disease progressive early-onset muscle weakness Tags
Green Green List (high evidence)	ADSSL1 Congenital myopathy v2.5	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Phenotypes Myopathy, distal, 5, 617030 Tags
Green Green List (high evidence)	AGL Rhabdomyolysis and metabolic muscle disorders v1.42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Glycogen storage disease IIIa 232400 Glycogen storage disease IIIb 232400 Tags
Green Green List (high evidence)	AGRN Congenital myaesthenic syndrome v2.5	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 Congenital myasthenic syndrome Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 Tags
Green Green List (high evidence)	ALDOA Rhabdomyolysis and metabolic muscle disorders v1.42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Glycogen storage disease XII 611881 Tags
Green Green List (high evidence)	ALG14 Congenital myaesthenic syndrome v2.5	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 Congenital myasthenic syndrome ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 Tags
Green Green List (high evidence)	ALG2 Congenital myaesthenic syndrome v2.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Congenital myasthenic syndromes Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 Congenital disorder of glycosylation CDG type Ii, 607906 Tags
Green Green List (high evidence)	ANO5 Rhabdomyolysis and metabolic muscle disorders v1.42	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 dystrophy v2.6	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 v1.20	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 Paediatric motor neuronopathies v1.32	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Green Green List (high evidence)	AR_CAG STR Distal myopathies v1.20	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes Spinal and bulbar muscular atrophy or Kennedy diseases 313200 Tags STR
Green Green List (high evidence)	AR_CAG STR Congenital myopathy v2.5	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes Spinal and bulbar muscular atrophy or Kennedy diseases 313200 Tags STR
Green Green List (high evidence)	ASAH1 Paediatric motor neuronopathies v1.32	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 Tags
Green Green List (high evidence)	B3GALNT2 Congenital muscular dystrophy v2.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11 congenital muscular dystrophies Tags
Green Green List (high evidence)	B4GAT1 Congenital muscular dystrophy v2.4	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287 Tags
Green Green List (high evidence)	BAG3 Limb girdle muscular dystrophy v2.6	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 v1.20	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 v1.32	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3 Tags
Green Green List (high evidence)	BIN1 Congenital myopathy v2.5	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Centronuclear Myopathy, Recessive Myopathy, centronuclear, autosomal recessive, 255200 Tags
Green Green List (high evidence)	CACNA1S Congenital myopathy v2.5	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes congenital myopathy Tags
Green Green List (high evidence)	CACNA1S Rhabdomyolysis and metabolic muscle disorders v1.42	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes {Malignant hyperthermia susceptibility 5}, 601887 Tags
Green Green List (high evidence)	CAPN3 Limb girdle muscular dystrophy v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, type 2A, 253600 Limb-Girdle Muscular Dystrophy, Recessive Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	CAV3 Rhabdomyolysis and metabolic muscle disorders v1.42	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Phenotypes Muscular dystrophy, limb-girdle, type IC 607801 Myopathy, distal, Tateyama type 614321 Rippling muscle disease 606072 Tags
Green Green List (high evidence)	CAV3 Limb girdle muscular dystrophy v2.6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Limb-Girdle Muscular Dystrophy, Dominant Muscular dystrophy, limb-girdle, type IC, 607801 Rippling muscle disease, 606072 Creatine phosphokinase, elevated serum, 123320 Myopathy, distal, Tateyama type, 614321 Cardiomyopathy, familial hypertrophic, 192600 Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	CCDC78 Congenital myopathy v2.5	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London South GLH Expert Radboud University Medical Center, Nijmegen Phenotypes Myopathy, centronuclear, 4, 614807 Tags
Green Green List (high evidence)	CFL2 Congenital myopathy v2.5	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nemaline myopathy 7, autosomal recessive, 610687 Nemaline Myopathy, Recessive Tags
Green Green List (high evidence)	CHAT Congenital myaesthenic syndrome v2.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Myasthenic syndrome, congenital, 6, presynaptic, 254210 Congenital myasthenics sndrome associated with episodic apnea CMS-EA Tags
Green Green List (high evidence)	CHCHD10 Paediatric motor neuronopathies v1.32	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, Jokela type 615048 Tags
Green Green List (high evidence)	CHKB Congenital muscular dystrophy v2.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Congenital Muscular Dystrophy, CKHB-related Muscular dystrophy, congenital, megaconial type, 602541 Tags
Green Green List (high evidence)	CHRNA1 Congenital myaesthenic syndrome v2.5	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Congenital Myasthenic Syndrome, Dominant/Recessive Myasthenic syndrome, congenital, 1A, slow-channel, 601462 Myasthenic syndrome, congenital, 1B, fast-channel, 608930 Slow channel myasthenic syndrome fast channel myasthenic syndrome Acetylcholine receptor deficiency syndrome Tags
Green Green List (high evidence)	CHRNB1 Congenital myaesthenic syndrome v2.5	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 Myasthenic syndrome, congenital, 2A, slow-channel, 616313 Slow channel myasthenic syndrome fast channel myasthenic syndrome Acetylcholine receptor deficiency syndrome Myasthenic syndrome, slow-channel congenital, 601462 Congenital Myasthenic Syndrome, Dominant/Recessive Tags deletions
Green Green List (high evidence)	CHRND Congenital myaesthenic syndrome v2.5	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Congenital Myasthenic Syndrome, Dominant/Recessive Myasthenic syndrome, slow-channel congenital, 601462 Slow channel myasthenic syndrome fast channel myasthenic syndrome Acetylcholine receptor deficiency syndrome ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 Myasthenic syndrome, congenital, 3B, fast-channel, 616322 Tags
Green Green List (high evidence)	CHRNE Congenital myaesthenic syndrome v2.5	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Congenital Myasthenic Syndrome, Dominant/Recessive Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 4A, slow-channel, 605809 Myasthenic syndrome, congenital, 4B, fast-channel, 616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 Slow channel myasthenic syndrome fast channel myasthenic syndrome Acetylcholine receptor deficiency syndrome Reduced channel conductance syndrome Tags
Green Green List (high evidence)	CHRNG Congenital myaesthenic syndrome v2.5	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 Myasthenia gravis, neonatal transient Neonatal congenital myasthenia escobar syndrome fetal akinesia deformation sequence syndrome/FADS multiple pterygium syndrome/MPS Tags
Green Green List (high evidence)	CNBP Distal myopathies v1.20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Myotonic dystrophy 2, 602668 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Green Green List (high evidence)	COL12A1 Congenital myopathy v2.5	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UCL Phenotypes EDS/myopathy overlap syndrome Tags
Green Green List (high evidence)	COL12A1 Congenital muscular dystrophy v2.4	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Ullrich congenital muscular dystrophy 2 Bethlem myopathy 2 Tags
Green Green List (high evidence)	COL13A1 Congenital myaesthenic syndrome v2.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Literature Eligibility statement prior genetic testing Phenotypes Congenital myasthenic syndrome type 19 Myasthenic syndrome, congenital, 19, 616720 Tags
Green Green List (high evidence)	COL6A1 Congenital myopathy v2.5	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Bethlem myopathy, 158810 Ullrich congenital muscular dystrophy, 254090 Tags
Green Green List (high evidence)	COL6A1 Limb girdle muscular dystrophy v2.6	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Bethlem myopathy 1 158810 Tags
Green Green List (high evidence)	COL6A1 Congenital muscular dystrophy v2.4	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 Limb girdle muscular dystrophy v2.6	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Bethlem myopathy 1 158810 Tags
Green Green List (high evidence)	COL6A2 Congenital myopathy v2.5	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Bethlem myopathy, 158810 Ullrich congenital muscular dystrophy, 254090 Tags
Green Green List (high evidence)	COL6A2 Congenital muscular dystrophy v2.4	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Bethlem myopathy, 158810 Ullrich congenital muscular dystrophy, 254090 Tags
Green Green List (high evidence)	COL6A3 Limb girdle muscular dystrophy v2.6	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Bethlem myopathy 1 158810 Tags
Green Green List (high evidence)	COL6A3 Congenital myopathy v2.5	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Bethlem myopathy, 158810 Ullrich congenital muscular dystrophy, 254090 Tags
Green Green List (high evidence)	COL6A3 Congenital muscular dystrophy v2.4	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Bethlem myopathy, 158810 Ullrich congenital muscular dystrophy, 254090 Tags
Green Green List (high evidence)	COLQ Congenital myaesthenic syndrome v2.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Congenital Myasthenic Syndrome, Recessive Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency Myasthenic syndrome, congenital, 5, 603034 Tags treatable
Green Green List (high evidence)	CPT2 Rhabdomyolysis and metabolic muscle disorders v1.42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110 Tags
Green Green List (high evidence)	CPT2 Limb girdle muscular dystrophy v2.6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes CPT II deficiency, infantile, 600649 metabolic myopathy Tags
Green Green List (high evidence)	CRYAB Distal myopathies v1.20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Phenotypes Myopathy, myofibrillar 2, 608810 Tags
Green Green List (high evidence)	CRYAB Limb girdle muscular dystrophy v2.6	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Cataract 16, multiple types, 613763 myofibrillar myopathy Tags
Green Green List (high evidence)	DAG1 Congenital muscular dystrophy v2.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Emory Genetics Laboratory Phenotypes congenital muscular dystrophies congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538 Walker-Warburg syndrome Tags
Green Green List (high evidence)	DAG1 Limb girdle muscular dystrophy v2.6	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 Limb girdle muscular dystrophy v2.6	7 reviews 3 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, type 2R, 615325 myofibrillar myopathy cardiomyopathy limb girdle muscular dystrophy Tags
Green Green List (high evidence)	DES Distal myopathies v1.20	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Phenotypes Myopathy, myofibrillar 1, 601419 Tags
Green Green List (high evidence)	DMD Limb girdle muscular dystrophy v2.6	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 Rhabdomyolysis and metabolic muscle disorders v1.42	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Becker muscular dystrophy 300376 Tags gene-therapy-trial Skewed X-inactivation
Green Green List (high evidence)	DMD Congenital muscular dystrophy v2.4	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Duchenne muscular dystrophy, 310200 Becker muscular dystrophy, 300376 Tags gene-therapy-trial Skewed X-inactivation
Green Green List (high evidence)	DMPK_CTG STR Congenital muscular dystrophy v2.4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Myotonic dystrophy 1 160900 Tags STR
Green Green List (high evidence)	DMPK_CTG STR Congenital myopathy v2.5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Myotonic dystrophy 1 160900 Tags STR
Green Green List (high evidence)	DNAJB6 Distal myopathies v1.20	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 dystrophy v2.6	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 v2.5	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Myopathy, centronuclear, 160150 Charcot-Marie-Tooth disease, axonal, type 2M, 606482 Tags missense
Green Green List (high evidence)	DNM2 Distal myopathies v1.20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Myopathy, centronuclear, 160150 Tags
Green Green List (high evidence)	DOK7 Limb girdle muscular dystrophy v2.6	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 v2.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Myasthenic syndrome, congenital, 10, 254300 Myasthenia, limb-girdle, familial Limb girdle congenital myasthenic syndrome Tags treatable
Green Green List (high evidence)	DOK7 Congenital myopathy v2.5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Fetal akinesia deformation sequence, 208150 Myasthenic syndrome, congenital, 10, 254300 Tags
Green Green List (high evidence)	DOLK Congenital muscular dystrophy v2.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Congenital disorder of glycosylation, type Im Tags
Green Green List (high evidence)	DPAGT1 Congenital myaesthenic syndrome v2.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type Ij, 608093 Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 Limb girdle congenital myasthenic tubular aggregates congenital disorder of glycosylation type Ij (CDG-IJ) Tags
Green Green List (high evidence)	DPM2 Congenital muscular dystrophy v2.4	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Emory Genetics Laboratory Phenotypes musclular dystrophy dystroglycanopathy syndrome with severe epilepsy Congenital disorder of glycosylation, type Iu 615042 Tags
Green Green List (high evidence)	DYNC1H1 Paediatric motor neuronopathies v1.32	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, lower extremity-predominant, AD, 158600 Tags
Green Green List (high evidence)	DYSF Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Miyoshi muscular dystrophy 1 254130 Muscular dystrophy, limb-girdle, type 2B 253601 Myopathy, distal, with anterior tibial onset 606768 Tags
Green Green List (high evidence)	DYSF Limb girdle muscular dystrophy v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130 Limb-Girdle Muscular Dystrophy, Recessive Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	DYSF Distal myopathies v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Miyoshi muscular dystrophy 1, 254130 Tags
Green Green List (high evidence)	ECEL1 Congenital myopathy v2.5	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Expert Phenotypes Arthrogryposis, distal, type 5D, 615065 Tags
Green Green List (high evidence)	EMD Limb girdle muscular dystrophy v2.6	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 v1.42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes ?Glycogen storage disease XIII 612932 Tags
Green Green List (high evidence)	EPG5 Congenital myopathy v2.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes vacuolar myopathy? Tags
Green Green List (high evidence)	ETFA Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Literature Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glutaric acidemia IIA 231680 Tags
Green Green List (high evidence)	ETFB Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glutaric acidemia IIB 231680 Tags
Green Green List (high evidence)	ETFDH Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Phenotypes Glutaric acidemia IIC 231680 Tags
Green Green List (high evidence)	EXOSC3 Paediatric motor neuronopathies v1.32	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Pontocerebellar hypoplasia, type 1B 614678 Tags
Green Green List (high evidence)	FHL1 Congenital muscular dystrophy v2.4	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Expert Review Phenotypes Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717 Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 Tags
Green Green List (high evidence)	FHL1 Limb girdle muscular dystrophy v2.6	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 Distal myopathies v1.20	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Phenotypes Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 Tags
Green Green List (high evidence)	FKBP14 Congenital myopathy v2.5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 6, 14557 Tags
Green Green List (high evidence)	FKRP Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Tags
Green Green List (high evidence)	FKRP Limb girdle muscular dystrophy v2.6	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 Congenital muscular dystrophy v2.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 Tags
Green Green List (high evidence)	FKTN Limb girdle muscular dystrophy v2.6	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 Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Phenotypes Fukuyama congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 Tags
Green Green List (high evidence)	FKTN Congenital muscular dystrophy v2.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Fukuyama congenital muscular dystrophy Fukuyama Congenital Muscular Dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags structural-variant
Green Green List (high evidence)	FLNC Limb girdle muscular dystrophy v2.6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Emory Genetics Laboratory Phenotypes Myopathy, myofibrillar, 5 609524 Tags
Green Green List (high evidence)	FLNC Distal myopathies v1.20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes myofibrillar myopathy 5, 609524 Distal myopathy 4, 614065 Tags
Green Green List (high evidence)	FXR1 Congenital myopathy v2.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Congenital multi-minicore myopathy ?Myopathy, congenital proximal, with minicore lesions #618823 ?Myopathy, congenital, with respiratory insufficiency and bone fractures #618822 Tags
Green Green List (high evidence)	GAA Limb girdle muscular dystrophy v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Glycogen storage disease II 232300 Tags
Green Green List (high evidence)	GAA Rhabdomyolysis and metabolic muscle disorders v1.42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Literature Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease II 232300 Tags
Green Green List (high evidence)	GBE1 Rhabdomyolysis and metabolic muscle disorders v1.42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Glycogen storage disease IV 232500 Tags
Green Green List (high evidence)	GFPT1 Congenital myaesthenic syndrome v2.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Congenital Myasthenic Syndrome, Recessive Myasthenia, congenital, 12, with tubular aggregates, 610542 Limb-girdle congenital myasthenic syndrome tubular aggregates Tags
Green Green List (high evidence)	GMPPB Congenital myaesthenic syndrome v2.5	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 Congenital Myasthenic Syndrome muscular dystrophy-dystroglycanopathy congenital muscular dystrophy with mental retardation GMPPB-CMS Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome MDDGC14 with features of CMS Tags
Green Green List (high evidence)	GMPPB Limb girdle muscular dystrophy v2.6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	GMPPB Congenital muscular dystrophy v2.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 Tags
Green Green List (high evidence)	GNE Distal myopathies v1.20	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 dystrophy v2.6	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Phenotypes Nonaka myopathy, 605820 Distal myopathy Limb girdle muscular dystrophy Limb-girdle muscular dystrophy quadriceps sparing myopathy distal myopathy Nonaka myopathy, HIBM Tags
Green Green List (high evidence)	GYG1 Rhabdomyolysis and metabolic muscle disorders v1.42	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 v1.42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Glycogen storage disease 0, muscle 611556 Tags
Green Green List (high evidence)	HADHA Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Literature UKGTN Phenotypes Trifunctional protein deficiency 609015 Tags
Green Green List (high evidence)	HADHB Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Literature Emory Genetics Laboratory UKGTN Phenotypes Trifunctional protein deficiency 609015 Tags
Green Green List (high evidence)	HNRNPDL Limb girdle muscular dystrophy v2.6	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 v1.20	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 v1.20	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 v1.32	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Spinal muscular atrophy with respiratory distress, 604320 Tags
Green Green List (high evidence)	INPP5K Congenital muscular dystrophy v2.4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Literature Phenotypes Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment Tags
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss ISCA-37404-Loss Region Paediatric motor neuronopathies v1.32	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes microcephaly 105833 Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome Tags
Green Green List (high evidence)	2p15p16.1 region (includes BCL11A) Loss ISCA-37408-Loss Region Paediatric motor neuronopathies v1.32	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more) 612513 PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect Tags
Green Green List (high evidence)	2p15p16.1 region (includes BCL11A) Loss ISCA-37408-Loss Region Congenital myopathy v2.5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more) 612513 PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect Tags
Green Green List (high evidence)	17q21.3 recurrent region (includes KANSL1) Loss ISCA-37420-Loss Region Congenital myopathy v2.5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies 610443 PMID: 25217958 Koolen-De Vries syndrome 610443 Tags
Green Green List (high evidence)	17q21.3 recurrent region (includes KANSL1) Loss ISCA-37420-Loss Region Paediatric motor neuronopathies v1.32	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies 610443 PMID: 25217958 Koolen-De Vries syndrome 610443 Tags
Green Green List (high evidence)	4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss ISCA-37429-Loss Region Congenital myopathy v2.5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes 194190 Wolf-Hirschhorn syndrome Tags
Green Green List (high evidence)	4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss ISCA-37429-Loss Region Paediatric motor neuronopathies v1.32	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes 194190 Wolf-Hirschhorn syndrome Tags
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss ISCA-37478-Loss Region Paediatric motor neuronopathies v1.32	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes microcephaly Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome 105830 Tags
Green Green List (high evidence)	ISCU Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myopathy with lactic acidosis, hereditary 255125 Tags non-coding-known-pathogenic
Green Green List (high evidence)	ISPD Limb girdle muscular dystrophy v2.6	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 v2.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Congenital Muscular Dystrophy, alpha-dystroglycan related Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Walker-Warburg syndrome (WWS) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052 Tags new-gene-name
Green Green List (high evidence)	ITGA7 Congenital muscular dystrophy v2.4	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Congenital Muscular Dystrophy, ITGA7-related Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 Tags
Green Green List (high evidence)	KBTBD13 Congenital myopathy v2.5	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Nemaline Myopathy, Dominant Nemaline myopathy 6, autosomal dominant, 609273 Tags missense
Green Green List (high evidence)	KLHL40 Congenital myopathy v2.5	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Nemaline myopathy 8, autosomal recessive, 615348 Tags
Green Green List (high evidence)	KLHL41 Congenital myopathy v2.5	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Nemaline myopathy 9, 615731 Tags
Green Green List (high evidence)	LAMA2 Limb girdle muscular dystrophy v2.6	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 v2.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Congenital Muscular Dystrophy, LAMA2-related Muscular dystrophy, congenital merosin-deficient, 607855 Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855 Tags
Green Green List (high evidence)	LAMP2 Limb girdle muscular dystrophy v2.6	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 Yorkshire and North East GLH Expert Review Phenotypes Danon disease, 300257 Tags
Green Green List (high evidence)	LAMP2 Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Danon disease 300257 Tags
Green Green List (high evidence)	LARGE1 Congenital muscular dystrophy v2.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Congenital Muscular Dystrophy, alpha-dystroglycan related Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 Tags
Green Green List (high evidence)	LDB3 Distal myopathies v1.20	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 v1.42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Glycogen storage disease XI 612933 Tags
Green Green List (high evidence)	LMNA Congenital muscular dystrophy v2.4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Congenital Muscular Dystrophy, LMNA-related (Dominant) Emery-Dreifuss muscular dystrophy 2, AD, 181350 Tags
Green Green List (high evidence)	LMNA Limb girdle muscular dystrophy v2.6	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Emery-Dreifuss muscular dystrophy 2, AD, 181350 Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	LMNA Congenital myopathy v2.5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Congenital fiber type disproportion myopathy Tags
Green Green List (high evidence)	LMOD3 Congenital myopathy v2.5	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Literature Phenotypes Nemaline myopathy 10 616165 Tags
Green Green List (high evidence)	LPIN1 Limb girdle muscular dystrophy v2.6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myoglobinuria, acute recurrent, autosomal recessive, 268200 myoglobinuria exercise induced myopathy Tags
Green Green List (high evidence)	LPIN1 Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Myoglobinuria, acute recurrent, autosomal recessive 268200 Tags
Green Green List (high evidence)	LRP4 Congenital myaesthenic syndrome v2.5	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 Congenital myasthenic syndrome Myasthenic syndrome, congenital, 17, 616304 Tags
Green Green List (high evidence)	MAP3K20 Congenital myopathy v2.5	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UCL Phenotypes congenital myopathy with fibre type disproportion Tags
Green Green List (high evidence)	MATR3 Distal myopathies v1.20	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 v2.5	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 Tags
Green Green List (high evidence)	MICU1 Congenital myopathy v2.5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myopathy with extrapyramidal signs, 615673 Tags
Green Green List (high evidence)	MICU1 Congenital muscular dystrophy v2.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Myopathy with extrapyramidal signs, 615673 Tags
Green Green List (high evidence)	MSTO1 Congenital muscular dystrophy v2.4	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Congenital muscular dystrophy with Brain involvment Myopathy, mitochondrial, and ataxia, 617675 Tags
Green Green List (high evidence)	MTM1 Limb girdle muscular dystrophy v2.6	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Yorkshire and North East GLH Expert Review Expert Review Green Expert list Literature Phenotypes Myotubular myopathy, X-linked, 310400 Tags
Green Green List (high evidence)	MTM1 Congenital myopathy v2.5	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Phenotypes X-linked myotubular myopathy Myotubular myopathy, X-linked, 310400 Tags
Green Green List (high evidence)	MUSK Congenital myaesthenic syndrome v2.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 Congenital Myasthenic Syndrome, Recessive Congenital myasthenic syndrome Tags deletions
Green Green List (high evidence)	MYBPC1 Congenital myopathy v2.5	4 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Expert Phenotypes Arthrogryposis, distal, type 1B, 614335 Lethal congenital contracture syndrome 4, 614915 Tags
Green Green List (high evidence)	MYH2 Congenital myopathy v2.5	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Proximal myopathy and ophthalmoplegia 605637 Tags
Green Green List (high evidence)	MYH3 Congenital myopathy v2.5	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert UKGTN Phenotypes Arthrogryposis, distal, type 2A 193700 Arthrogryposis, distal, type 2B 601680 Arthrogryposis, distal, type 8 178110 Tags
Green Green List (high evidence)	MYH7 Limb girdle muscular dystrophy v2.6	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Laing distal myopathy, 160500 cardiomyopathy distal myopathy Tags
Green Green List (high evidence)	MYH7 Congenital myopathy v2.5	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Laing Distal Myopathy 160500 Tags
Green Green List (high evidence)	MYH7 Distal myopathies v1.20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Laing distal myopathy, 160500 Tags
Green Green List (high evidence)	MYH8 Congenital myopathy v2.5	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert UKGTN Phenotypes Trismus-pseudocamptodactyly syndrome, 158300 Tags
Green Green List (high evidence)	MYL1 Congenital myopathy v2.5	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Expert Review Phenotypes congenital myopathy Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 Tags
Green Green List (high evidence)	MYMK Congenital myopathy v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Carey-Fineman-Ziter syndrome 254940 Tags
Green Green List (high evidence)	MYMK Congenital muscular dystrophy v2.4	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Carey-Fineman-Ziter syndrome, 254940 Tags
Green Green List (high evidence)	MYO18B Congenital myopathy v2.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM Tags
Green Green List (high evidence)	MYO9A Congenital myaesthenic syndrome v2.5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Literature Phenotypes congenital myasthenic syndrome 24, presynaptic 618198 CMS Tags
Green Green List (high evidence)	MYOT Limb girdle muscular dystrophy v2.6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Limb-Girdle Muscular Dystrophy, Dominant Muscular dystrophy, limb-girdle, type 1A, 159000 Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	MYOT Distal myopathies v1.20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Phenotypes Myopathy, myofibrillar 3, 609200 Tags
Green Green List (high evidence)	MYPN Congenital myopathy v2.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH UCL Phenotypes Congenital cap myopathy Nemaline myopathy, 617336 Tags
Green Green List (high evidence)	NEB Distal myopathies v1.20	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 v2.5	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Phenotypes nemaline myopathy Nemaline Myopathy, Recessive Nemaline myopathy 2, autosomal recessive, 256030 Tags
Green Green List (high evidence)	ORAI1 Congenital myopathy v2.5	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert UKGTN Phenotypes Myopathy, tubular aggregate, 2 615883 Tags missense
Green Green List (high evidence)	ORAI1 Limb girdle muscular dystrophy v2.6	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Expert Review Phenotypes Myopathy, tubular aggregate, 2, 615883 Tags
Green Green List (high evidence)	PAX7 Congenital myopathy v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes Hypotonia Axial hypotonia Ptosis Scoliosis Delayed motor milestones Myopathy, congenital, progressive, with scoliosis, 618578 Tags
Green Green List (high evidence)	PFKM Limb girdle muscular dystrophy v2.6	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Glycogen storage disease VII, 232800 Tags
Green Green List (high evidence)	PFKM Rhabdomyolysis and metabolic muscle disorders v1.42	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 v1.42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease X 261670 Tags
Green Green List (high evidence)	PGK1 Rhabdomyolysis and metabolic muscle disorders v1.42	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Phosphoglycerate kinase 1 deficiency 300653 Tags
Green Green List (high evidence)	PGM1 Rhabdomyolysis and metabolic muscle disorders v1.42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Literature Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Congenital disorder of glycosylation, type It 614921 Tags
Green Green List (high evidence)	PHKA1 Limb girdle muscular dystrophy v2.6	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Muscle glycogenosis, 300559 Tags
Green Green List (high evidence)	PHKA1 Rhabdomyolysis and metabolic muscle disorders v1.42	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Literature UKGTN Phenotypes Muscle glycogenosis 300559 Tags
Green Green List (high evidence)	PHKB Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Literature Phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 Tags
Green Green List (high evidence)	PIEZO2 Congenital myopathy v2.5	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Expert Review Phenotypes Arthrogryposis, distal, type 3, 114300: Arthrogryposis, distal, type 5, 108145: Arthrogryposis, distal, with proprioception and touch, 617146 Tags
Green Green List (high evidence)	PLEC Congenital muscular dystrophy v2.4	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy with epidermolysis bullosa simplex, 226670 Muscular dystrophy, limb-girdle autosomal recessive 17, 613723 Epidermolysis bullosa simplex with muscular dystrophy, 226670 Tags
Green Green List (high evidence)	PLEC Limb girdle muscular dystrophy v2.6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Muscular dystrophy with epidermolysis bullosa simplex, 226670 Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	PLEC Congenital myaesthenic syndrome v2.5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Literature Phenotypes Congenital myasthenic syndrome Plectin deficiency myasthenic syndrome Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS) Tags monogenic-polygenic
Green Green List (high evidence)	POLG Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Literature Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700 Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 Progressive external ophthalmoplegia, autosomal dominant 1 157640 Progressive external ophthalmoplegia, autosomal recessive 1 258450 Tags
Green Green List (high evidence)	POLG2 Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131 Tags
Green Green List (high evidence)	POMGNT1 Congenital muscular dystrophy v2.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157 Tags
Green Green List (high evidence)	POMGNT1 Limb girdle muscular dystrophy v2.6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	POMGNT2 Congenital muscular dystrophy v2.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type Walker-Warburg syndrome Tags
Green Green List (high evidence)	POMGNT2 Limb girdle muscular dystrophy v2.6	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 v2.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 Tags
Green Green List (high evidence)	POMT1 Congenital muscular dystrophy v2.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	POMT1 Limb girdle muscular dystrophy v2.6	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 Limb girdle muscular dystrophy v2.6	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 v2.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158 Tags
Green Green List (high evidence)	PRKAG2 Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Literature Phenotypes Cardiomyopathy, hypertrophic 6 600858 Glycogen storage disease of heart, lethal congenital 261740 Wolff-Parkinson-White syndrome 194200 Tags
Green Green List (high evidence)	PYGM Rhabdomyolysis and metabolic muscle disorders v1.42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Glycogen storage disease V McArdle disease 232600 AR Tags
Green Green List (high evidence)	PYGM Limb girdle muscular dystrophy v2.6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes McArdle disease, 232600 Tags
Green Green List (high evidence)	PYROXD1 Congenital myopathy v2.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Myopathy, myofibrillar, 8, 617258 myopathy early-onset myopathy with internalized nuclei and myofibrillar disorganization Tags
Green Green List (high evidence)	RAPSN Congenital myaesthenic syndrome v2.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Congenital Myasthenic Syndrome, Recessive Congenital myasthenic syndrome Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 acute respiratory crises late and early onset Tags
Green Green List (high evidence)	RBCK1 Rhabdomyolysis and metabolic muscle disorders v1.42	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert Review UKGTN Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency 615895 Tags
Green Green List (high evidence)	RRM2B Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Literature Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 613077 Tags
Green Green List (high evidence)	RYR1 Rhabdomyolysis and metabolic muscle disorders v1.42	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 dystrophy v2.6	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 Central core disease, 117000 congenital myopathy malignant hyperthermia Tags
Green Green List (high evidence)	RYR1 Congenital myopathy v2.5	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Phenotypes Central core disease 117000 Minicore myopathy with external ophthalmoplegia 255320 Neuromuscular disease, congenital, with uniform type 1 fiber 117000 Malignant hyperthermia susceptibility 1 145600 Tags pharmacogenetics treatable
Green Green List (high evidence)	RYR3 Congenital myopathy v2.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Phenotypes childhood-onset nemaline myopathy Tags
Green Green List (high evidence)	SCN4A Congenital myaesthenic syndrome v2.5	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, 614198 Congenital Myasthenic Syndrome, Recessive congenital myasthenic syndromes Tags
Green Green List (high evidence)	SCN4A Congenital myopathy v2.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes congenital myopathy Tags
Green Green List (high evidence)	SELENON Limb girdle muscular dystrophy v2.6	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Muscular dystrophy, rigid spine, 1, 602771 congenital myopathy muscular dystophy rigid spine syndrome Tags
Green Green List (high evidence)	SELENON Congenital muscular dystrophy v2.4	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 v2.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy, rigid spine, 1 602771 Myopathy, congenital, with fiber-type disproportion 255310 Tags
Green Green List (high evidence)	SGCA Limb girdle muscular dystrophy v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Muscular dystrophy, limb-girdle, type 2D, 608099 Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	SGCB Limb girdle muscular dystrophy v2.6	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 dystrophy v2.6	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 dystrophy v2.6	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 v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Literature Phenotypes Marinesco-Sjogren syndrome 248800 Tags
Green Green List (high evidence)	SIL1 Congenital muscular dystrophy v2.4	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Marinesco-Sjogren syndrome, 248800 Tags
Green Green List (high evidence)	SLC18A3 Congenital myaesthenic syndrome v2.5	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 Congenital myasthenic syndrome ophthalmopleggia and apnea Myasthenic syndrome, congenital, 21, presynaptic, 617239 Tags
Green Green List (high evidence)	SLC22A5 Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Literature UKGTN Phenotypes Carnitine deficiency, systemic primary 212140 Tags
Green Green List (high evidence)	SLC25A1 Congenital myaesthenic syndrome v2.5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes ?Myasthenic syndrome, congenital, 23, presynaptic 618197 Tags
Green Green List (high evidence)	SLC25A4 Congenital myopathy v2.5	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes itochondrial myopathy Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 60928 Tags
Green Green List (high evidence)	SLC52A2 Paediatric motor neuronopathies v1.32	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list UKGTN Radboud University Medical Center, Nijmegen Phenotypes Brown-Vialetto-Van Laere syndrome 2, 614707 Tags treatable
Green Green List (high evidence)	SLC52A3 Paediatric motor neuronopathies v1.32	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Brown-Vialetto-Van Laere syndrome 1, 211530 Tags
Green Green List (high evidence)	SLC5A7 Congenital myaesthenic syndrome v2.5	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 Congenital myasthenic syndrome Hereditory motor neuropathy Myasthenic syndrome, congenital, 20, presynaptic, 617143 Tags
Green Green List (high evidence)	SMN1 Paediatric motor neuronopathies v1.32	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Spinal muscular atrophy 1, 253300 Spinal muscular atrophy 2, 253550 Spinal muscular atrophy 3, 253400 Spinal muscular atrophy 4, 271150 Tags cnv gene-therapy-trial
Green Green List (high evidence)	SMN1 Limb girdle muscular dystrophy v2.6	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Expert Review Phenotypes Spinal muscular atrophy-4, 271150 Tags
Green Green List (high evidence)	SPEG Congenital myopathy v2.5	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Literature Phenotypes Centronuclear myopathy 5 615959 Tags
Green Green List (high evidence)	SPG11 Paediatric motor neuronopathies v1.32	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Amyotrophic lateral sclerosis 5, juvenile 602099 Tags
Green Green List (high evidence)	SQSTM1 Distal myopathies v1.20	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 v2.5	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Myopathy, congenital, Baily-Bloch, 255995 Tags
Green Green List (high evidence)	STIM1 Congenital myopathy v2.5	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert UKGTN Radboud University Medical Center, Nijmegen Phenotypes Myopathy, tubular aggregate, 160565 Tags missense
Green Green List (high evidence)	STIM1 Limb girdle muscular dystrophy v2.6	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Expert Review Phenotypes Myopathy, tubular aggregate, 1, 160565 Tags
Green Green List (high evidence)	SUCLA2 Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Literature Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 Tags
Green Green List (high evidence)	SYNE1 Congenital muscular dystrophy v2.4	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8) Tags
Green Green List (high evidence)	SYNE1 Limb girdle muscular dystrophy v2.6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 Tags
Green Green List (high evidence)	SYNE2 Limb girdle muscular dystrophy v2.6	6 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH Radboud University Medical Center, Nijmegen Phenotypes Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999 congenital muscular dystrophy Tags
Green Green List (high evidence)	SYT2 Congenital myaesthenic syndrome v2.5	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Radboud University Medical Center, Nijmegen Phenotypes Myasthenic syndrome, congenital, 7, presynaptic, 616040 Tags
Green Green List (high evidence)	TANGO2 Rhabdomyolysis and metabolic muscle disorders v1.42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 Tags
Green Green List (high evidence)	TCAP Limb girdle muscular dystrophy v2.6	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 v1.20	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 v1.42	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Literature Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Tags
Green Green List (high evidence)	TMEM5 Congenital muscular dystrophy v2.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags new-gene-name
Green Green List (high evidence)	TNNI2 Congenital myopathy v2.5	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London South GLH Expert UKGTN Phenotypes Arthrogryposis multiplex congenita, distal, type 2B, 601680 Tags
Green Green List (high evidence)	TNNT1 Congenital myopathy v2.5	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes nemaline myopathy Nemaline Myopathy, Recessive Nemaline myopathy 5, Amish type, 605355 Tags
Green Green List (high evidence)	TNNT3 Congenital myopathy v2.5	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London South GLH Expert UKGTN Phenotypes Arthyrogryposis, distal, type 2B, 601680 Tags
Green Green List (high evidence)	TNPO3 Limb girdle muscular dystrophy v2.6	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Expert Review Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 Tags
Green Green List (high evidence)	TPM2 Congenital myopathy v2.5	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes CAP myopathy 2 609285 Nemaline myopathy 4, autosomal dominant 609285 Arthrogryposis multiplex congenita, distal, type1 108120: Arthrogryposis, distal, type 2B 601680 Tags
Green Green List (high evidence)	TPM3 Congenital myopathy v2.5	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes CAP myopathy 1 609284 Myopathy, congenital, with fiber-type disproportion 255310 Nemaline myopathy 1, autosomal dominant or recessive 609284 Tags
Green Green List (high evidence)	TRAPPC11 Limb girdle muscular dystrophy v2.6	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, type 2S, 615356 Tags
Green Green List (high evidence)	TRAPPC11 Congenital muscular dystrophy v2.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Literature Phenotypes congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract infantile-onset muscle weakness Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 Tags
Green Green List (high evidence)	TRIM32 Limb girdle muscular dystrophy v2.6	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 Paediatric motor neuronopathies v1.32	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinal muscular atrophy with congenital bone fractures 1 616866 Tags
Green Green List (high evidence)	TRIP4 Congenital myopathy v2.5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes severe congenital myopathy with congenital bone fractures, 616866 Spinal muscular atrophy with congenital bone fractures 1, 616866 Tags
Green Green List (high evidence)	TRPV4 Paediatric motor neuronopathies v1.32	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Distal Congenital Nonprogressive Spinal Muscular Atrophy Brachyolmia type 3, 113500 Tags
Green Green List (high evidence)	TSEN54 Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Literature UKGTN Phenotypes ?Pontocerebellar hypoplasia type 5 610204 Pontocerebellar hypoplasia type 2A 277470 Pontocerebellar hypoplasia type 4 225753 Tags
Green Green List (high evidence)	TSFM Rhabdomyolysis and metabolic muscle disorders v1.42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Combined oxidative phosphorylation deficiency 3 610505 Tags
Green Green List (high evidence)	TTN Distal myopathies v1.20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Tibial muscular dystrophy, tardive, 600334 Tags
Green Green List (high evidence)	TTN Limb girdle muscular dystrophy v2.6	7 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy, limb-girdle, type 2J, 608807 Limb girdle muscular dystrophy Distal myopathy Myofibrillar myopathy Congenital myopathy dilated cardiomyopathy HMERF arthrogryposis Tags
Green Green List (high evidence)	TTN Congenital myopathy v2.5	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Myopathy, early-onset, with fatal cardiomyopathy, 611705 Tags
Green Green List (high evidence)	TYMP Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Literature Emory Genetics Laboratory Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 Tags
Green Green List (high evidence)	UBA1 Paediatric motor neuronopathies v1.32	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Infantile Spinal Muscular Atrophy, X-Linked Spinal muscular atrophy, X-linked 2, infantile, 301830 Tags
Green Green List (high evidence)	VAMP1 Congenital myaesthenic syndrome v2.5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Literature Phenotypes Congenital myasthenic syndrome presynaptic CMS Tags
Green Green List (high evidence)	VCP Limb girdle muscular dystrophy v2.6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320 Tags
Green Green List (high evidence)	VCP Distal myopathies v1.20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 Tags
Green Green List (high evidence)	VMA21 Limb girdle muscular dystrophy v2.6	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myopathy, X-linked, with excessive autophagy, 310440 X-Linked myopathy with excessive autophagy Tags
Green Green List (high evidence)	VMA21 Congenital myopathy v2.5	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes vacuolar myopathy? Tags
Green Green List (high evidence)	VRK1 Paediatric motor neuronopathies v1.32	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Phenotypes Pontocerebellar hypoplasia type 1A 607596 Tags
Amber Amber List (moderate evidence)	ACTA1 Congenital muscular dystrophy v2.4	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes CMD with rigid spine Nemaline myopathy 3, autosomal dominant or recessive 161800 Myopathy, congenital, with fiber-type disproportion 1 255310 Tags
Amber Amber List (moderate evidence)	ADSSL1 Distal myopathies v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Myopathy, distal, 5, 617030 Tags
Amber Amber List (moderate evidence)	ALS2 Paediatric motor neuronopathies v1.32	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes juvenile amyotrophic lateral sclerosis-2, 205100 Tags
Amber Amber List (moderate evidence)	ATP7A Paediatric motor neuronopathies v1.32	2 reviews	Not set	Sources Expert Review Amber Expert Radboud University Medical Center, Nijmegen Phenotypes Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489 Tags
Amber Amber List (moderate evidence)	CASQ1 Congenital myopathy v2.5	5 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Amber UCL Phenotypes Vacuolar myopathy with CASQ1 aggregates (VMCQA) Myopathy, vacuolar, with CASQ1 aggregates, 616231 Tags
Amber Amber List (moderate evidence)	CASQ1 Limb girdle muscular dystrophy v2.6	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS Expert Review Phenotypes Myopathy, vacuolar, with CASQ1 aggregates, 616231 Tags
Amber Amber List (moderate evidence)	CNTN1 Congenital myopathy v2.5	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes ?Myopathy, congenital, Compton-North, 612540 Tags watchlist
Amber Amber List (moderate evidence)	COL4A1 Congenital muscular dystrophy v2.4	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London South GLH Expert Review Amber Expert Review Phenotypes walker warburg syndrome, muscle eye brain disease Brain small vessel disease with or without ocular anomalies, 175780 Tags
Amber Amber List (moderate evidence)	DPM1 Congenital muscular dystrophy v2.4	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Amber Emory Genetics Laboratory Phenotypes congenital muscular dystrophies Congenital disorder of glycosylation, type Ie 608799 Tags
Amber Amber List (moderate evidence)	DPM3 Limb girdle muscular dystrophy v2.6	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 limb-girdle muscular dystrophy dystroglycanopathy Tags
Amber Amber List (moderate evidence)	DPM3 Congenital muscular dystrophy v2.4	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Amber Emory Genetics Laboratory Phenotypes congenital muscular dystrophies Congenital disorder of glycosylation, type Io, 612937'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 Tags
Amber Amber List (moderate evidence)	DYSF Congenital muscular dystrophy v2.4	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, type 2B, 253601 Myopathy, distal, with anterior tibial onset, 606768 Miyoshi muscular dystrophy 1, 254130 Tags
Amber Amber List (moderate evidence)	EXOSC8 Paediatric motor neuronopathies v1.32	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature UKGTN Phenotypes Pontocerebellar hypoplasia, type 1C 616081 Tags
Amber Amber List (moderate evidence)	FLNC Congenital myopathy v2.5	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Myopathy, myofibrillar, 5, 609524 early-onset restrictive cardiomyopathy and congenital myopathy Tags
Amber Amber List (moderate evidence)	GOLGA2 Congenital muscular dystrophy v2.4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS London South GLH Phenotypes Secondary dystroglycanopathy Tags
Amber Amber List (moderate evidence)	HACD1 Congenital myopathy v2.5	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Amber Expert Review Phenotypes congenital myopathy Tags watchlist
Amber Amber List (moderate evidence)	HSPB1 Paediatric motor neuronopathies v1.32	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Tags
Amber Amber List (moderate evidence)	HSPB8 Paediatric motor neuronopathies v1.32	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Phenotypes Neuropathy, distal hereditary motor, type IIA 158590 Tags
Amber Amber List (moderate evidence)	KY Congenital myopathy v2.5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber UCL Phenotypes congenital myopathy Tags watchlist
Amber Amber List (moderate evidence)	LAMP2 Congenital myopathy v2.5	4 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS London South GLH Expert Review Amber Expert Review Phenotypes vacuolar myopathy? Danon disease, 300257 Tags
Amber Amber List (moderate evidence)	MTMR14 Congenital myopathy v2.5	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Amber Expert Review Phenotypes centronuclear myopathy Centronuclear myopathy, autosomal, modifier of, 160150 Tags watchlist
Amber Amber List (moderate evidence)	MYBPC3 Congenital myopathy v2.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Amber Expert Review Phenotypes myopathy and cardiomyopathy Cardiomyopathy, hypertrophic, 4, 115197 Tags watchlist
Amber Amber List (moderate evidence)	MYF5 Congenital myopathy v2.5	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert list Phenotypes OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES Tags
Amber Amber List (moderate evidence)	NEFL Congenital myopathy v2.5	2 reviews	MONOALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber UCL Phenotypes Nemaline Myopathy Tags watchlist
Amber Amber List (moderate evidence)	POGLUT1 Congenital muscular dystrophy v2.4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS London South GLH Phenotypes ?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232 Tags watchlist
Amber Amber List (moderate evidence)	POGLUT1 Limb girdle muscular dystrophy v2.6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Expert list Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232 Tags
Amber Amber List (moderate evidence)	PPA2 Congenital myopathy v2.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Expert Review Phenotypes Sudden cardiac failure, infantile, 617222 Tags
Amber Amber List (moderate evidence)	REEP1 Paediatric motor neuronopathies v1.32	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Literature Phenotypes ?Neuronopathy, distal hereditary motor, type VB 614751 Tags
Amber Amber List (moderate evidence)	SETX Paediatric motor neuronopathies v1.32	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Amyotrophic lateral sclerosis 4, juvenile 602433 Tags
Amber Amber List (moderate evidence)	SMCHD1 Limb girdle muscular dystrophy v2.6	6 reviews 2 green 1 red	Other - please specifiy in evaluation comments	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS South West GLH UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Fascioscapulohumeral muscular dystrophy 2, digenic 158901 fascioscapulohumeral muscular dystrophy Tags digenic
Amber Amber List (moderate evidence)	TCAP Congenital muscular dystrophy v2.4	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Emory Genetics Laboratory Phenotypes Congenital muscular dystrophies Tags
Amber Amber List (moderate evidence)	TOR1AIP1 Congenital myaesthenic syndrome v2.5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072 Tags
Amber Amber List (moderate evidence)	TRDN Congenital myopathy v2.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Expert list Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 Tags
Amber Amber List (moderate evidence)	VAPB Paediatric motor neuronopathies v1.32	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Spinal muscular atrophy, late-onset, Finkel type 182980 Amyotrophic lateral sclerosis 8 608627 Tags
Red Red List (low evidence)	AARS Paediatric motor neuronopathies v1.32	4 reviews 2 red	Not set	Sources Expert Review Red Expert Tags new-gene-name
Red Red List (low evidence)	ACTA1 Limb girdle muscular dystrophy v2.6	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 dystrophy v2.6	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Glycogen storage disease IIIb, 232400 Glycogen storage disease IIIc, 232400 Tags
Red Red List (low evidence)	AMPD1 Rhabdomyolysis and metabolic muscle disorders v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Rhabdomyolysis Myopathy due to myoadenylate deaminase deficiency 615511 Tags
Red Red List (low evidence)	ANO5 Congenital muscular dystrophy v2.4	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Gnathodiaphyseal dysplasia, 166260 Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319 Limb-Girdle Muscular Dystrophy, Recessive Tags
Red Red List (low evidence)	ATP2A1 Congenital myopathy v2.5	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Brody Myopathy Brody myopathy, 601003 Tags
Red Red List (low evidence)	ATP2A1 Limb girdle muscular dystrophy v2.6	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 v2.5	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, myofibrillar, 6, 612954 Tags
Red Red List (low evidence)	BET1 Congenital muscular dystrophy v2.4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Phenotypes Congenital muscular dystrophy with epilepsy Tags
Red Red List (low evidence)	BSCL2 Paediatric motor neuronopathies v1.32	2 reviews 1 green	Not set	Sources Expert Review Red Expert Tags
Red Red List (low evidence)	BVES Limb girdle muscular dystrophy v2.6	7 reviews 2 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Yorkshire and North East GLH NHS GMS South West GLH Literature Phenotypes Muscular dystrophy, limb-girdle, type 2X, 616812 limb girdle muscular dystrophy cardiac arrhythmia Tags
Red Red List (low evidence)	CACNA1A Congenital myaesthenic syndrome v2.5	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Phenotypes episodic ataxia plus myasthenic syndrome hemiplegic migraine plus disturbed NMJ function Tags
Red Red List (low evidence)	CAV3 Congenital myopathy v2.5	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Cardiomyopathy, familial hypertrophic 192600 Creatine phosphokinase, elevated serum 123320 Long QT syndrome 9 611818 Muscular dystrophy, limb-girdle, type IC 607801 Myopathy, distal, Tateyama type 614321 Rippling muscle disease 606072 Tags
Red Red List (low evidence)	CHCHD10 Congenital myopathy v2.5	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant 616209 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911 Spinal muscular atrophy, Jokela type 615048 Tags adult-onset
Red Red List (low evidence)	CHRND Limb girdle muscular dystrophy v2.6	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 dystrophy v2.6	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myotonia congenita, dominant, 160800 Tags
Red Red List (low evidence)	CNBP_CCTG STR Distal myopathies v1.20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Myotonic dystrophy 2 602668 Tags NGS Not Validated STR
Red Red List (low evidence)	COL12A1 Limb girdle muscular dystrophy v2.6	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 v2.4	4 reviews 2 red	Not set	Sources NHS GMS London South GLH Expert Review Red Expert Review Tags
Red Red List (low evidence)	COL9A3 Congenital myopathy v2.5	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969 Tags
Red Red List (low evidence)	COLQ Limb girdle muscular dystrophy v2.6	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 v1.42	1 review	Not set	Sources UKGTN Tags
Red Red List (low evidence)	CPT2 Congenital myopathy v2.5	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes CPT II deficiency, infantile 600649 CPT II deficiency, lethal neonatal 608836 CPT II deficiency, myopathic, stress-induced 255110 Tags
Red Red List (low evidence)	CRYAB Congenital myopathy v2.5	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, myofibrillar, 2 608810 Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869 Tags
Red Red List (low evidence)	CYP2C8 Rhabdomyolysis and metabolic muscle disorders v1.42	2 reviews 1 green	Unknown	Sources Radboud University Medical Center, Nijmegen Phenotypes Rhabdomyolysis, cerivastatin-induced Tags pharmacogenetics
Red Red List (low evidence)	DCTN1 Paediatric motor neuronopathies v1.32	1 review	Not set	Sources Expert Review Red Expert Tags
Red Red List (low evidence)	DES Congenital myopathy v2.5	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Myopathy, myofibrillar, 1, 601419 Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 Tags
Red Red List (low evidence)	DMD Distal myopathies v1.20	1 review	Not set	Sources Expert Review Red Eligibility statement prior genetic testing Tags Skewed X-inactivation
Red Red List (low evidence)	DMPK Congenital myopathy v2.5	3 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red UKGTN Phenotypes Myotonic dystrophy 1 160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	DMPK Distal myopathies v1.20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Eligibility statement prior genetic testing Phenotypes MYOTONIC DYSTROPHY 1 (DM1) Tags
Red Red List (low evidence)	DMPK Paediatric motor neuronopathies v1.32	2 reviews 1 red	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes spinal muscular atrophy, myotonic dystrophy (type 1), Prader-Willi syndrome, Angelman syndrome, and maternal UPD 14. Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	DMPK_CTG STR Paediatric motor neuronopathies v1.32	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Myotonic dystrophy 1 160900 Tags STR
Red Red List (low evidence)	DNAJB2 Paediatric motor neuronopathies v1.32	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 v2.5	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Myofibrillar Myopathy, Dominant Muscular dystrophy, limb-girdle, type 1E 603511 Tags
Red Red List (low evidence)	DNM2 Limb girdle muscular dystrophy v2.6	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 dystrophy v2.6	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 Congenital muscular dystrophy v2.4	2 reviews 1 red	Not set	Sources UKGTN Phenotypes Facioscapulohumeral Muscular Dystrophy 1A Tags cnv currently-ngs-unreportable treatable
Red Red List (low evidence)	DUX4 Distal myopathies v1.20	1 review	Not set	Sources Expert Review Red Eligibility statement prior genetic testing Phenotypes FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A) Tags
Red Red List (low evidence)	DYSF Congenital myopathy v2.5	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Miyoshi muscular dystrophy 1 254130 Muscular dystrophy, limb-girdle, type 2B 253601 Myopathy, distal, with anterior tibial onset 606768 Tags
Red Red List (low evidence)	EMD Congenital muscular dystrophy v2.4	3 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 Tags
Red Red List (low evidence)	ETFDH Limb girdle muscular dystrophy v2.6	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 v2.5	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704 Tags
Red Red List (low evidence)	FBP2 Rhabdomyolysis and metabolic muscle disorders v1.42	2 reviews 2 red	Not set	Sources UKGTN Tags
Red Red List (low evidence)	FBXO38 Paediatric motor neuronopathies v1.32	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 v2.5	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Red Expert Review Phenotypes Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717 Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 Tags
Red Red List (low evidence)	GARS Paediatric motor neuronopathies v1.32	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 dystrophy v2.6	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Glycogen storage disease IV, 232500 Tags
Red Red List (low evidence)	GFER Congenital myopathy v2.5	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076 Tags
Red Red List (low evidence)	GFPT1 Limb girdle muscular dystrophy v2.6	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 Congenital myasthenic syndrome Tags
Red Red List (low evidence)	GNE Congenital myopathy v2.5	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Nonaka myopathy 605820 Tags
Red Red List (low evidence)	GOSR2 Congenital muscular dystrophy v2.4	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Phenotypes Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan Tags
Red Red List (low evidence)	GYG1 Limb girdle muscular dystrophy v2.6	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 v2.5	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal Tags
Red Red List (low evidence)	HRAS Congenital myopathy v2.5	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Costello syndrome 218040 Congenital myopathy with excess of muscle spindles 218040 Tags
Red Red List (low evidence)	HSPB3 Paediatric motor neuronopathies v1.32	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 v2.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Literature Phenotypes 3-methylglutaconic aciduria, type VIII 617248 Tags
Red Red List (low evidence)	ISCU Congenital myopathy v2.5	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myopathy with lactic acidosis, hereditary, 255125 Tags
Red Red List (low evidence)	KLHL9 Distal myopathies v1.20	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 v2.5	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 v2.5	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 v2.5	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 v2.5	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Myofibrillar Myopathy, Dominant Myopathy, myofibrillar, 4, 609452 Tags
Red Red List (low evidence)	LGI4 Congenital myopathy v2.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Other Literature Phenotypes Arthrogryposis Multiplex Congenita Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 AMCNMY Tags
Red Red List (low evidence)	LIMS2 Limb girdle muscular dystrophy v2.6	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 dystrophy v2.6	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 v2.5	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Amyotrophic lateral sclerosis 21 606070 Tags adult-onset
Red Red List (low evidence)	MEG3 Paediatric motor neuronopathies v1.32	2 reviews	Not set	Sources Expert Review Red Tags locus-type-rna-long-non-coding
Red Red List (low evidence)	MT-TL1 Congenital myopathy v2.5	2 reviews 2 red	MITOCHONDRIAL	Sources Expert Review Red UKGTN Phenotypes MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES MELAS 540000 Tags
Red Red List (low evidence)	MYF6 Congenital myopathy v2.5	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Centronuclear Myopathy, Dominant Myopathy, centronuclear, 3, 614408 Tags
Red Red List (low evidence)	MYH14 Limb girdle muscular dystrophy v2.6	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 v2.5	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369 Deafness, autosomal dominant 4A 600652 Tags
Red Red List (low evidence)	MYOT Congenital myopathy v2.5	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy, limb-girdle, type 1A 159000 Myopathy, myofibrillar, 3 609200 Myopathy, spheroid body 182920 Tags
Red Red List (low evidence)	NEB Limb girdle muscular dystrophy v2.6	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Nemaline myopathy 2, autosomal recessive, 256030 congenital myopathy Tags
Red Red List (low evidence)	OBSCN Rhabdomyolysis and metabolic muscle disorders v1.42	2 reviews 1 red	Unknown	Sources Expert Review Red Expert Review Tags watchlist
Red Red List (low evidence)	PABPN1 Congenital muscular dystrophy v2.4	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Oculopharyngeal muscular dystrophy, 164300 Oculopharyngeal muscular dystrophy Tags nucleotide-repeat-expansion
Red Red List (low evidence)	PGK1 Limb girdle muscular dystrophy v2.6	3 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Phosphoglycerate kinase 1 deficiency, 300653 Tags
Red Red List (low evidence)	PHKG1 Rhabdomyolysis and metabolic muscle disorders v1.42	2 reviews 2 red	Not set	Sources UKGTN Tags
Red Red List (low evidence)	PLEKHG5 Paediatric motor neuronopathies v1.32	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 v2.5	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Neutral Lipid Storage Disease with Myopathy Neutral lipid storage disease with myopathy, 610717 Tags
Red Red List (low evidence)	POLG Limb girdle muscular dystrophy v2.6	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 dystrophy v2.6	7 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Yorkshire and North East GLH NHS GMS South West GLH Radboud University Medical Center, Nijmegen Phenotypes ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 limb girdle muscular dystrophy congenital muscular dystrophy Tags
Red Red List (low evidence)	PREPL Congenital myaesthenic syndrome v2.5	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 v2.5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial myopathy and sideroblastic anemia 1, 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia Tags
Red Red List (low evidence)	RAPSN Limb girdle muscular dystrophy v2.6	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 v2.5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Polyglucosan body myopathy, early-onset, with or without immunodeficiency, 615895 Tags
Red Red List (low evidence)	RYR1 Congenital muscular dystrophy v2.4	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 v2.5	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 dystrophy v2.6	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 v1.32	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 v1.42	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Hypouricemia, renal 220150 Tags
Red Red List (low evidence)	SLC25A42 Congenital myopathy v2.5	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction Tags
Red Red List (low evidence)	SLC2A9 Rhabdomyolysis and metabolic muscle disorders v1.42	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 v1.32	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Tags
Red Red List (low evidence)	SLC5A7 Paediatric motor neuronopathies v1.32	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature UKGTN Phenotypes Neuronopathy, distal hereditary motor, type VIIA 158580 Tags
Red Red List (low evidence)	SMCHD1 Congenital muscular dystrophy v2.4	2 reviews 1 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 Tags
Red Red List (low evidence)	SNAP25 Congenital myaesthenic syndrome v2.5	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 v1.32	4 reviews 1 red	Other - please specifiy in evaluation comments	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Prader-Willi syndrome 176270 Tags currently-ngs-unreportable
Red Red List (low evidence)	SPTBN4 Congenital myopathy v2.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes ?Myopathy, congenital, with neuropathy and deafness, 617519 Tags
Red Red List (low evidence)	SRPK3 Congenital myopathy v2.5	3 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS London South GLH Phenotypes Nemaline myopathy Tags
Red Red List (low evidence)	STIM2 Congenital myopathy v2.5	2 reviews 1 red	Not set	Sources Expert Review Red UKGTN Tags
Red Red List (low evidence)	SYNE2 Congenital muscular dystrophy v2.4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Emery-Dreifuss Muscular Dystrophy Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 Tags
Red Red List (low evidence)	SYT15 Congenital myaesthenic syndrome v2.5	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 v1.32	2 reviews	Not set	Sources Expert Review Red Expert Tags
Red Red List (low evidence)	TIA1 Congenital myopathy v2.5	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Welander distal myopathy, 604454 Tags
Red Red List (low evidence)	TMEM43 Congenital muscular dystrophy v2.4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Emery-Dreifuss muscular dystrophy 7, AD 614302 Tags
Red Red List (low evidence)	TNNC2 Congenital myopathy v2.5	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Phenotypes congenital myopathy Tags
Red Red List (low evidence)	TNNT3 Limb girdle muscular dystrophy v2.6	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Arthrogryposis, distal, type 2B, 601680 Arthrogryposis Tags
Red Red List (low evidence)	TPM2 Limb girdle muscular dystrophy v2.6	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 dystrophy v2.6	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes CAP myopathy 1, 609284 Nemaline myopathy 1, autosomal dominant or recessive, 609284 Nemaline myopathy congenital myopathy Tags
Red Red List (low evidence)	UBQLN1 Paediatric motor neuronopathies v1.32	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 v2.5	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 v2.5	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 613954 Charcot-Marie-Tooth disease, type 2Y 616687 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320 Tags adult-onset
Red Red List (low evidence)	VPS33B Congenital myopathy v2.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London South GLH Expert Review Phenotypes vacuolar myopathy Arthrogryposis renal dysfunction, and cholestasis 1, 208085 Tags
Red Red List (low evidence)	YARS2 Congenital myopathy v2.5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 Tags
Red Red List (low evidence)	ZC4H2 Congenital myopathy v2.5	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red NHS GMS London South GLH Phenotypes Wieacker-Wolff syndrome, 314580 Tags
No list No list	CAVIN1 Congenital muscular dystrophy v2.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Lipodystrophy, congenital generalized, type 4 (MIM#613327) Tags
No list No list	GGPS1 Congenital muscular dystrophy v2.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Muscular dystrophy Deafness Ovarian insufficiency Tags
No list No list	MYL2 Congenital myopathy v2.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes infantile muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy Tags
No list No list	PNPLA2 Limb girdle muscular dystrophy v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Neutral lipid storage disease with myopathy 610717 Tags
No list No list	PYROXD1 Limb girdle muscular dystrophy v2.6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Myopathy, myofibrillar, 8, 617258 adult-onset limb girdle muscular dystrophy 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

Neuromuscular disorders (Version 5.51)

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