Congenital myopathy (Version 4.37)

The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

Description

This panel is used for clinical indication 'R81 Congenital myopathy' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R81 Congenital myopathy'.

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

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

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

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

Relevant diseases:
- Congenital myopathy

Panel Activity

17 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Tracy Lester (Genetics laboratory, Oxford UK)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Carl Fratter (Oxford University Hospitals NHS Trust)

Group: GeCIP domain
Workplace: NHS diagnostic lab
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Anna Sarkozy (Great Ormond Street Hospital)

Group: Other NHS organisation
Workplace: NHS clinical service
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Rachael Mein (Viapath at Guy's Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Arianna Tucci (Genomics England Curator)

Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Rhiannon Mellis (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

129 Entities

129 reviewed, 67 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 129 Entitiess
Green Green List (high evidence)	ACTA1	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myopathy, actin, congenital, with cores, OMIM:161800 Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800 Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310 Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 Tags
Green Green List (high evidence)	ACTN2	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS Phenotypes Myopathy, congenital with structured cores and Z-line abnormalities, OMIM:618654 Tags
Green Green List (high evidence)	ADSSL1	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Myopathy, distal, 5, OMIM:617030 Tags new-gene-name
Green Green List (high evidence)	AR_CAG STR	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags STR
Green Green List (high evidence)	ASCC3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Intellectual developmental disorder, autosomal recessive 81, OMIM:620700 Tags
Green Green List (high evidence)	BIN1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Centronuclear myopathy 2, OMIM:255200 Tags watchlist_moi
Green Green List (high evidence)	CACNA1S	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green London South GLH NHS GMS Phenotypes Congenital myopathy, MONDO:0019952 Tags
Green Green List (high evidence)	CCDC78	7 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Myopathy, centronuclear, 4, OMIM:614807 Tags Q4_22_demote_amber Q4_22_expert_review
Green Green List (high evidence)	CFL2	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nemaline myopathy 7, autosomal recessive, OMIM:610687 Tags
Green Green List (high evidence)	COL12A1	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS UCL Phenotypes EDS/myopathy overlap syndrome Tags
Green Green List (high evidence)	COL6A1	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bethlem myopathy 1, OMIM:158810 Ullrich congenital muscular dystrophy 1, OMIM:254090 Tags
Green Green List (high evidence)	COL6A2	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090 Tags
Green Green List (high evidence)	COL6A3	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090 Tags
Green Green List (high evidence)	COX6A2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 Tags
Green Green List (high evidence)	DMPK_CTG STR	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags STR
Green Green List (high evidence)	DNM2	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Centronuclear myopathy 1, OMIM:160150 Lethal congenital contracture syndrome 5, OMIM:615368 Tags missense watchlist_moi
Green Green List (high evidence)	DOK7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Fetal akinesia deformation sequence 3, OMIM:618389 Myasthenic syndrome, congenital, 10, OMIM:254300 Tags
Green Green List (high evidence)	ECEL1	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green London South GLH NHS GMS Phenotypes Arthrogryposis, distal, type 5D, OMIM:615065 Tags
Green Green List (high evidence)	EPG5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green London South GLH NHS GMS Phenotypes Vici syndrome, OMIM:242840 Tags
Green Green List (high evidence)	FKBP14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557 Tags
Green Green List (high evidence)	FXR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Myopathy, congenital proximal, with minicore lesions, OMIM:618823 Myopathy, congenital, with respiratory insufficiency and bone fractures, OMIM:618822 Tags
Green Green List (high evidence)	HACD1	9 reviews 6 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green London South GLH NHS GMS Phenotypes Myopathy, congenital, nonprogressive, OMIM:619967 Tags
Green Green List (high evidence)	HNRNPA2B1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature NHS GMS Phenotypes oculopharyngodistal myopathy muscular dystrophy congenital myopathy Tags
Green Green List (high evidence)	2p15p16.1 region (includes BCL11A) Loss ISCA-37408-Loss Region	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies Tags
Green Green List (high evidence)	17q21.3 recurrent region (includes KANSL1) Loss ISCA-37420-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes Koolen-De Vries syndrome, OMIM:610443 Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural features Tags
Green Green List (high evidence)	4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss ISCA-37429-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes Wolf-Hirschhorn syndrome, OMIM:194190 Tags
Green Green List (high evidence)	KBTBD13	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nemaline myopathy 6, autosomal dominant, OMIM:609273 Tags missense
Green Green List (high evidence)	KLHL40	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Nemaline myopathy 8, autosomal recessive, OMIM:615348 Tags
Green Green List (high evidence)	KLHL41	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Nemaline myopathy 9, OMIM:615731 Tags
Green Green List (high evidence)	LMNA	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital fiber type disproportion myopathy Tags
Green Green List (high evidence)	LMOD3	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London South GLH NHS GMS Phenotypes Nemaline myopathy 10, OMIM:616165 Tags
Green Green List (high evidence)	MAP3K20	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS UCL Phenotypes Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760 Tags
Green Green List (high evidence)	MEGF10	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, OMIM:614399 Tags
Green Green List (high evidence)	MICU1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myopathy with extrapyramidal signs, OMIM:615673 Tags
Green Green List (high evidence)	MTM1	6 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myopathy, centronuclear, X-linked, OMIM:310400 Tags
Green Green List (high evidence)	MYBPC1	4 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert Review Green London South GLH NHS GMS Phenotypes Arthrogryposis, distal, type 1B, OMIM:614335 Lethal congenital contracture syndrome 4, OMIM:614915 Myopathy, congenital, with tremor, OMIM:618524 Tags
Green Green List (high evidence)	MYH2	6 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Proximal myopathy and ophthalmoplegia, OMIM:605637 Tags
Green Green List (high evidence)	MYH3	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green London South GLH NHS GMS UKGTN Phenotypes Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700 Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469 Tags Q2_23_MOI Q2_23_NHS_review
Green Green List (high evidence)	MYH7	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Laing distal myopathy, OMIM:160500 Myopathy, myosin storage, autosomal dominant, OMIM:608358 Myopathy, myosin storage, autosomal recessive, OMIM:255160 Tags Q2_23_NHS_review Q4_22_MOI
Green Green List (high evidence)	MYL1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green London South GLH NHS GMS Phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414 Tags
Green Green List (high evidence)	MYL2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424 Tags
Green Green List (high evidence)	MYMK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Carey-Fineman-Ziter syndrome, OMIM:254940 Tags
Green Green List (high evidence)	MYO18B	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green London South GLH NHS GMS Phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549 Tags
Green Green List (high evidence)	MYOD1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975 Tags
Green Green List (high evidence)	MYPN	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS UCL Phenotypes Nemaline myopathy 11, autosomal recessive, OMIM:617336 Tags
Green Green List (high evidence)	NEB	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nemaline myopathy 2, autosomal recessive, OMIM:256030 Tags watchlist_moi
Green Green List (high evidence)	ORAI1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green London South GLH NHS GMS UKGTN Phenotypes Myopathy, tubular aggregate, 2, OMIM:615883 Tags missense
Green Green List (high evidence)	PAX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes Myopathy, congenital, progressive, with scoliosis, OMIM:618578 Tags
Green Green List (high evidence)	PIEZO2	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green London South GLH NHS GMS Phenotypes Arthrogryposis, distal, type 3, OMIM:114300: Arthrogryposis, distal, type 5, OMIM:108145: Arthrogryposis, distal, with proprioception and touch, OMIM:617146 Tags
Green Green List (high evidence)	PYROXD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Myopathy, myofibrillar, 8, OMIM:617258 Tags
Green Green List (high evidence)	RYR1	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Central core disease, OMIM:117000 Neuromuscular disease, congenital, with uniform type 1 fiber, OMIM:117000 Minicore myopathy with external ophthalmoplegia, OMIM:255320 King-Denborough syndrome, OMIM:619542 Tags pharmacogenetics treatable
Green Green List (high evidence)	RYR3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes Congenital myopathy 20, OMIM:620310 Nemaline myopathy, MONDO:0018958 Tags
Green Green List (high evidence)	SCN4A	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green London South GLH NHS GMS Phenotypes Congenital myopathy, MONDO:0019952 Tags
Green Green List (high evidence)	SELENON	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy, rigid spine, 1, OMIM:602771 Tags
Green Green List (high evidence)	SLC25A4	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184 Tags
Green Green List (high evidence)	SPEG	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London South GLH NHS GMS Phenotypes Centronuclear myopathy 5, OMIM:615959 Tags
Green Green List (high evidence)	STAC3	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Myopathy, congenital, Baily-Bloch, OMIM:255995 Tags
Green Green List (high evidence)	STIM1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myopathy, tubular aggregate, 1, OMIM:160565 Tags missense
Green Green List (high evidence)	TNNC2	7 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS Phenotypes Myopathy, congenital, with neonatal respiratory insufficiency, OMIM:620161 Tags
Green Green List (high evidence)	TNNI2	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green London South GLH NHS GMS UKGTN Phenotypes Arthrogryposis, distal, type 2B1, OMIM:601680 Tags
Green Green List (high evidence)	TNNT1	6 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nemaline myopathy 5, Amish type, OMIM:605355 Tags Q2_23_MOI Q2_23_NHS_review
Green Green List (high evidence)	TNNT3	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green London South GLH NHS GMS UKGTN Phenotypes Arthrogryposis, distal, type 2B2, OMIM:618435 Tags
Green Green List (high evidence)	TPM2	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes CAP myopathy 2, OMIM:609285 Nemaline myopathy 4, autosomal dominant, OMIM:609285 Tags Q2_23_MOI Q2_23_NHS_review watchlist_moi
Green Green List (high evidence)	TPM3	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes CAP myopathy 1, OMIM:609284 Myopathy, congenital, with fiber-type disproportion, OMIM:255310 Nemaline myopathy 1, autosomal dominant or recessive, OMIM:609284 Tags
Green Green List (high evidence)	TRIP4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066 Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866 Tags
Green Green List (high evidence)	TTN	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Salih myopathy, OMIM:611705 Tags
Green Green List (high evidence)	VMA21	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green London South GLH NHS GMS Phenotypes Myopathy, X-linked, with excessive autophagy, OMIM:310440 Tags
Amber Amber List (moderate evidence)	ASCC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spinal muscular atrophy with congenital bone fractures 2, OMIM:616867 Tags Q1_23_NHS_review Q1_23_promote_green
Amber Amber List (moderate evidence)	CNTN1	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London South GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Myopathy, congenital, Compton-North, OMIM:612540 Tags watchlist
Amber Amber List (moderate evidence)	COL13A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myasthenic syndrome, congenital, 19, OMIM:616720 Tags Q1_23_NHS_review Q1_23_promote_green treatable
Amber Amber List (moderate evidence)	COL25A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Amber Literature Research Phenotypes Arthrogryposis multiplex congenita with or without ocular congenital cranial dysinnervation disorder Tags Q1_23_NHS_review Q1_23_promote_green
Amber Amber List (moderate evidence)	DHX16	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733 Tags
Amber Amber List (moderate evidence)	DNAJB4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes congenital myopathy with early respiratory failure Tags Q1_23_NHS_review Q1_23_promote_green
Amber Amber List (moderate evidence)	FLNC	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Myopathy, distal, 4, OMIM:614065 Myopathy, myofibrillar, 5, OMIM:609524 Tags
Amber Amber List (moderate evidence)	GBE1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Literature Phenotypes arthrogryposis multiplex congenita foetal akinesias fetal akinesia deformation sequence severe congenital myopathy multiple pterygium syndrome Tags Q1_23_NHS_review Q1_23_promote_green
Amber Amber List (moderate evidence)	GFER	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076 Tags to_be_confirmed_NHSE
Amber Amber List (moderate evidence)	KY	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber UCL Phenotypes Myopathy, myofibrillar, 7, OMIM:617114 Tags Q1_23_NHS_review Q1_23_promote_green
Amber Amber List (moderate evidence)	LAMP2	4 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Amber London South GLH NHS GMS Phenotypes Danon disease, OMIM:300257 Tags
Amber Amber List (moderate evidence)	LETM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 Tags Q3_23_MOI Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	MLIP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, OMIM:620138 Tags Q4_22_promote_green
Amber Amber List (moderate evidence)	MTMR14	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Amber London South GLH NHS GMS Phenotypes {Centronuclear myopathy, autosomal, modifier of}, OMIM:160150 Tags watchlist
Amber Amber List (moderate evidence)	MYBPC3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber London South GLH NHS GMS Phenotypes Cardiomyopathy, dilated, 1MM, OMIM:615396 Cardiomyopathy, hypertrophic, 4, OMIM:115197 Tags watchlist
Amber Amber List (moderate evidence)	MYF5	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155 Tags
Amber Amber List (moderate evidence)	NEFL	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber UCL Phenotypes Nemaline Myopathy Tags watchlist
Amber Amber List (moderate evidence)	PPA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber NHS GMS Phenotypes Sudden cardiac failure, infantile, OMIM:617222 Tags
Amber Amber List (moderate evidence)	SLC25A42	5 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416 Tags watchlist
Amber Amber List (moderate evidence)	SPTBN4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519 Tags Q1_23_promote_green
Amber Amber List (moderate evidence)	SVIL	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myofibrillar myopathy 10, OMIM:619040 Tags watchlist
Amber Amber List (moderate evidence)	TRDN	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber NHS GMS Phenotypes Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, OMIM:615441 Tags Q2_23_NHS_review Q2_23_promote_green
Amber Amber List (moderate evidence)	UNC45B	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myofibrillar myopathy 11, OMIM:619178 Tags Q4_22_expert_review Q4_22_NHS_review Q4_22_promote_green
Amber Amber List (moderate evidence)	VWA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216 neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977 Tags Q1_24_expert_review Q1_24_promote_green
Amber Amber List (moderate evidence)	ZC4H2	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber London South GLH NHS GMS Phenotypes Wieacker-Wolff syndrome, OMIM:314580 Wieacker-Wolff syndrome, female-restricted, OMIM:301041 Tags Q2_23_NHS_review Q2_23_promote_green
Red Red List (low evidence)	ATP2A1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Brody myopathy, OMIM:601003 Tags
Red Red List (low evidence)	BAG3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, myofibrillar, 6, OMIM:612954 Tags
Red Red List (low evidence)	CASQ1	6 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London South GLH NHS GMS UCL Phenotypes Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 Tags
Red Red List (low evidence)	CAV3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myopathy, distal, Tateyama type, OMIM:614321 Tags
Red Red List (low evidence)	CHCHD10	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, OMIM:615911 Spinal muscular atrophy, Jokela type, OMIM:615048 Tags adult-onset
Red Red List (low evidence)	COL9A3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969 Tags
Red Red List (low evidence)	CPT2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes CPT II deficiency, infantile, OMIM:600649 CPT II deficiency, lethal neonatal, OMIM:608836 Tags
Red Red List (low evidence)	CRYAB	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, myofibrillar, 2, OMIM:608810 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 Tags
Red Red List (low evidence)	DES	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, myofibrillar, 1, OMIM:601419 Scapuloperoneal syndrome, neurogenic, Kaeser type, OMIM:181400 Tags
Red Red List (low evidence)	DMPK	4 reviews 1 green 2 red	Other	Sources Expert Review Red UKGTN Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	DNAJB6	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 1, OMIM:603511 Tags
Red Red List (low evidence)	DYSF	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Miyoshi muscular dystrophy 1 254130 Muscular dystrophy, limb-girdle, type 2B 253601 Myopathy, distal, with anterior tibial onset 606768 Tags
Red Red List (low evidence)	FAM111B	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, OMIM:615704 Tags
Red Red List (low evidence)	FHL1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Red NHS GMS 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)	GNE	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Nonaka myopathy, OMIM:605820 Tags
Red Red List (low evidence)	HNRNPA1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424 Tags
Red Red List (low evidence)	HRAS	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Costello syndrome, OMIM:218040 Congenital myopathy with excess of muscle spindles, OMIM:218040 Tags
Red Red List (low evidence)	HTRA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Phenotypes 3-methylglutaconic aciduria, type VIII, OMIM:617248 Tags
Red Red List (low evidence)	ISCU	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myopathy with lactic acidosis, hereditary, OMIM:255125 Tags
Red Red List (low evidence)	KLHL9	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London South GLH NHS GMS Phenotypes Early onset distal myopathy Nemaline myopathy Tags
Red Red List (low evidence)	LDB3	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, 4, OMIM:609452 Tags
Red Red List (low evidence)	LGI4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Other Phenotypes Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468 Tags
Red Red List (low evidence)	MATR3	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 21, OMIM:606070 Tags adult-onset
Red Red List (low evidence)	MT-TL1	2 reviews 2 red	MITOCHONDRIAL	Sources Expert Review Red UKGTN Phenotypes MELAS syndrome, MONDO:0010789 Tags
Red Red List (low evidence)	MYF6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Centronuclear Myopathy, Dominant Tags
Red Red List (low evidence)	MYH14	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, OMIM:614369 Tags
Red Red List (low evidence)	MYH8	7 reviews 2 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Red London South GLH NHS GMS UKGTN Phenotypes Trismus-pseudocamptodactyly syndrome, OMIM:158300 Tags
Red Red List (low evidence)	MYOT	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, 3, OMIM:609200 Myopathy, spheroid body, OMIM:182920 Tags
Red Red List (low evidence)	PNPLA2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Neutral lipid storage disease with myopathy, OMIM:610717 Tags
Red Red List (low evidence)	PUS1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, OMIM:600462 Tags
Red Red List (low evidence)	RBCK1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 Tags
Red Red List (low evidence)	SRPK3	3 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London South GLH NHS GMS Phenotypes Nemaline myopathy, MONDO:0018958 Tags
Red Red List (low evidence)	STIM2	2 reviews 1 red	Unknown	Sources Expert Review Red UKGTN Tags
Red Red List (low evidence)	TIA1	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Welander distal myopathy, OMIM:604454 Tags
Red Red List (low evidence)	VCP	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, OMIM:167320 Tags adult-onset
Red Red List (low evidence)	VPS33B	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red London South GLH NHS GMS Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085 Tags
Red Red List (low evidence)	YARS2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, OMIM:613561 Tags

Major version comments

2023-03-22 15:09 Arina Puzriakova (Genomics England Curator) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2022-11-30 13:33 Catherine Snow (Genomics England) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-12-10 14:05 Louise Daugherty (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.235) was signed off under NHS Genomic Medicine Service governance on (10/12/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

Congenital myopathy (Version 4.37)

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129 Entities

129 reviewed, 67 green

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