The latest signed off version for the GMS is v6.0. The current version, shown here, may differ from the signed-off version.

Congenital muscular dystrophy (Version 6.8)

Level 2: Neurology

Relevant disorders: R79
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Latest signed off version: v6.0 (30 Apr 2025)
Previously signed off versions: v5.0, v4.24, v4.23, v4.0, v3.0, v2.2
Previous code: 55b117c022c1fc7dd7ce411c

Description

This panel is used for clinical indication 'R79 Congenital muscular dystrophy' 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 'R79 Congenital muscular dystrophy'.

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.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your 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

Panel Activity

18 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Emma Clement (Great Ormond Street Hospital)

Group: GeCIP domain
Workplace: NHS clinical service
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
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
William Macken (North Thames GMS)

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

Group: Other
Workplace: Research lab
Gavin Ryan (West Midlands Regional Genetics Laboratory)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Arina Puzriakova (Genomics England Curator)

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

Group: Other
Workplace: Other
Hannah Knight (NIHR BioResource - University of Cambridge)

Group: Other
Workplace: Research lab
Ida Ertmanska (Genomics England Curator)

Group: Other
Workplace: Other

63 Entities

63 reviewed, 48 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 63 Entitiess
Green List (high evidence)	B3GALNT2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181 Tags
Green List (high evidence)	B4GAT1	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287 Tags
Green List (high evidence)	BET1	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Congenital muscular dystrophy, MONDO:0019950 Tags
Green List (high evidence)	CAVIN1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Lipodystrophy, congenital generalized, type 4, OMIM:613327 Tags
Green List (high evidence)	CHKB	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, congenital, megaconial type, OMIM:602541 Tags
Green List (high evidence)	CIAO1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 Tags
Green List (high evidence)	COL12A1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green London South GLH NHS GMS Phenotypes Ullrich congenital muscular dystrophy 2 Bethlem myopathy 2 Tags
Green List (high evidence)	COL6A1	4 reviews 2 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 List (high evidence)	COL6A2	4 reviews 2 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, 158810 Ullrich congenital muscular dystrophy, 254090 Tags
Green List (high evidence)	COL6A3	4 reviews 2 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 List (high evidence)	DAG1	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London South GLH NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, OMIM:616538 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818 Tags watchlist_moi
Green List (high evidence)	DMD	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Becker muscular dystrophy, OMIM:300376 Duchenne muscular dystrophy, OMIM:310200 Tags gene-therapy-trial Skewed X-inactivation
Green List (high evidence)	DMPK_CTG STR	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags STR
Green List (high evidence)	DOLK	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green London South GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type Im, OMIM:610768 Tags
Green List (high evidence)	DPM2	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London South GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type Iu, OMIM:615042 Tags
Green List (high evidence)	DPM3	9 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London South GLH NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937 ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992 Tags
Green List (high evidence)	DTNA	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes muscular dystrophy, MONDO:0020121 Tags
Green List (high evidence)	EMD	7 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, OMIM:310300 Tags Skewed X-inactivation
Green List (high evidence)	FHL1	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 Expert Review Green NHS GMS Phenotypes Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, OMIM:300717 Tags
Green List (high evidence)	FKRP	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, OMIM:613153 Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5, OMIM:606612 Tags
Green List (high evidence)	FKTN	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800 Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4, OMIM:613152 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, OMIM:611588 Tags structural-variant
Green List (high evidence)	GGPS1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518 Tags
Green List (high evidence)	GMPPB	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, OMIM:615350 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14, OMIM:615351 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, OMIM:615352 Tags
Green List (high evidence)	GOLGA2	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Developmental delay with hypotonia, myopathy, and brain abnormalities, OMIM:620240 Tags
Green List (high evidence)	GOSR2	7 reviews 5 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Muscular dystrophy, congenital, with or without seizures, OMIM:620166 Tags
Green List (high evidence)	HNRNPA2B1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Other Research Phenotypes Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422 Tags
Green List (high evidence)	INPP5K	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London South GLH NHS GMS Phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404 Tags
Green List (high evidence)	ISPD	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, OMIM:614643 Tags new-gene-name
Green List (high evidence)	ITGA7	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, congenital, due to ITGA7 deficiency, OMIM:613204 Tags
Green List (high evidence)	JAG2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566 Tags
Green List (high evidence)	LAMA2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, OMIM:607855 Tags
Green List (high evidence)	LARGE1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, OMIM:608840 Tags
Green List (high evidence)	LMNA	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital Muscular Dystrophy, LMNA-related (Dominant) Emery-Dreifuss muscular dystrophy 2, AD, 181350 Tags
Green List (high evidence)	MICU1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green London South GLH NHS GMS Phenotypes Myopathy with extrapyramidal signs, 615673 Tags
Green List (high evidence)	MSTO1	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675 Tags
Green List (high evidence)	PLEC	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723 Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 Tags
Green List (high evidence)	POGLUT1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232 autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977 Tags
Green List (high evidence)	POMGNT1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3, OMIM:613151 Tags
Green List (high evidence)	POMGNT2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830 Tags
Green List (high evidence)	POMK	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249 Tags
Green List (high evidence)	POMT1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1, OMIM:613155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, OMIM:609308 Tags
Green List (high evidence)	POMT2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, OMIM:613150 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, OMIM:613156 Tags
Green List (high evidence)	PYROXD1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes muscular dystrophy Tags
Green List (high evidence)	SELENON	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy, rigid spine, 1, 602771 Tags
Green List (high evidence)	SIL1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Marinesco-Sjogren syndrome, OMIM:248800 Tags
Green List (high evidence)	SYNE1	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant, OMIM:612998 Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484 Tags
Green List (high evidence)	TMEM5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green London South GLH NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041 Tags new-gene-name
Green List (high evidence)	TRAPPC11	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London South GLH NHS GMS Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356 Tags
Amber List (moderate evidence)	ACTA1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes CMD with rigid spine Nemaline myopathy 3, autosomal dominant or recessive 161800 Myopathy, congenital, with fiber-type disproportion 1 255310 Tags
Amber List (moderate evidence)	COL4A1	7 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber London South GLH NHS GMS Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, MONDO:0012726 Tags
Amber List (moderate evidence)	DPM1	7 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber London South GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type Ie, OMIM:608799 Tags watchlist
Amber List (moderate evidence)	DYSF	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Miyoshi muscular dystrophy 1, OMIM:254130 Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601 Myopathy, distal, with anterior tibial onset, OMIM:606768 Tags
Amber List (moderate evidence)	TCAP	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954 Tags
Amber List (moderate evidence)	TK2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301 Tags Q4_25_NHS_review Q4_25_promote_green
Red List (low evidence)	ANO5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Miyoshi muscular dystrophy 3, OMIM:613319 Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307 Tags
Red List (low evidence)	COL4A2	4 reviews 2 red	Unknown	Sources Expert Review Expert Review Red London South GLH NHS GMS Tags
Red List (low evidence)	DUX4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources UKGTN Phenotypes Facioscapulohumeral Muscular Dystrophy 1A Tags cnv currently-ngs-unreportable treatable
Red List (low evidence)	MYMK	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Phenotypes Carey-Fineman-Ziter syndrome, OMIM:254940 Carey-Fineman-Ziter syndrome, MONDO:0009700 Tags
Red List (low evidence)	PABPN1	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Oculopharyngeal muscular dystrophy, OMIM:164300 Tags nucleotide-repeat-expansion
Red List (low evidence)	RYR1	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Phenotypes congenital muscular dystrophies Central core disease Minicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Tags
Red List (low evidence)	SMCHD1	2 reviews 1 red	Other	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901 Tags
Red List (low evidence)	SYNE2	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 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999 Tags
Red List (low evidence)	TMEM43	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Emery-Dreifuss muscular dystrophy 7, AD, OMIM:614302 Tags

Major version comments

2025-04-30 16:28 Arina Puzriakova (Genomics England Curator) promoted panel to 6.0
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 (6.0) following this.

2024-10-30 12:14 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 5.0
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 (5.0) following this.

2023-03-22 15:07 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 13:28 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.

2019-12-11 10:52 Louise Daugherty (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.77) was signed off under NHS Genomic Medicine Service governance on (11/12/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

27.01.2017 Panel revised after expert review and internal review with further curation.

Congenital muscular dystrophy (Version 6.8)

18 reviewers

63 Entities

63 reviewed, 48 green

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