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

Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies (Version 4.24)

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Limb girdle muscular dystrophy, R82
Panel types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Latest signed off version: v4.0 (22 Mar 2023)
Previously signed off versions: v3.0, v2.4
Previous code: 55b7a65322c1fc05fc7a1869

Description

This panel is used for clinical indication 'R82 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies' 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 'R82 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies'.

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.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

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

23 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
Ian Berry (Leeds Genetics Laboratory)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Ellen Thomas (Genomics England Curator)

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

Group: Other
Workplace: Other
Rebecca Foulger (Genomics England curator)

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

Group: Other
Workplace: Other
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
Natalie Forrester (SWGLH - Bristol Genetics)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Chiara Marini Bettolo (NUTH)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ana Topf (John Walton Muscular Dystrophy Research Centre)

Group: GeCIP domain
Workplace: Research lab
Elizabeth Harris (Newcastle upon Tyne NHS Foundation Trust)

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
Agnese Zarina (Rīga Stradiņš Univeristy)

Group: Other
Workplace: Other diagnostic lab
Oliver Watkinson (NHS)

Group: Other NHS organisation
Workplace: NHS clinical service
Katherine Schon (University of Cambridge)

Group: GeCIP domain
Workplace: NHS clinical service
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)

Group: Other NHS organisation
Workplace: Other diagnostic lab
Hannah Knight (NIHR BioResource - University of Cambridge)

Group: Other
Workplace: Research lab

97 Entities

97 reviewed, 59 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 97 Entitiess
Green Green List (high evidence)	ACADVL	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes VLCAD deficiency, 201475 metabolic myopathy rhabdomyolsis Tags
Green Green List (high evidence)	ANO5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH 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)	BAG3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Myopathy, myofibrillar, 6, 612954 Tags
Green Green List (high evidence)	CAPN3	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600 Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129 Tags Q2_23_MOI
Green Green List (high evidence)	CAV3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Rippling muscle disease 2, OMIM:606072 Myopathy, distal, Tateyama type, OMIM:614321 Tags
Green Green List (high evidence)	COL6A1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services 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	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bethlem myopathy 1 158810 Tags
Green Green List (high evidence)	COL6A3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090 Tags
Green Green List (high evidence)	CPT2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes CPT II deficiency, infantile, OMIM:600649 CPT II deficiency, lethal neonatal, OMIM:608836 Tags
Green Green List (high evidence)	CRYAB	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Myopathy, myofibrillar, 2, OMIM:608810 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 Tags
Green Green List (high evidence)	DAG1	7 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen South West GLH Yorkshire and North East GLH Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 Limb girdle muscular dystrophy congenital muscular dystrophy Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	DES	7 reviews 3 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen South West GLH Yorkshire and North East GLH Phenotypes Muscular dystrophy, limb-girdle, type 2R, 615325 myofibrillar myopathy cardiomyopathy limb girdle muscular dystrophy Tags
Green Green List (high evidence)	DMD	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes Duchenne muscular dystrophy 310200 Becker muscular dystrophy 300376 Tags gene-therapy-trial Skewed X-inactivation
Green Green List (high evidence)	DNAJB6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Limb-Girdle Muscular Dystrophy, Dominant Muscular dystrophy, limb-girdle, type 1E, 603511 Tags
Green Green List (high evidence)	DOK7	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Congenital myasthenic syndrome Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	DYSF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen 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)	EMD	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked 310300 Tags
Green Green List (high evidence)	FHL1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green Phenotypes Emery-Dreifuss muscular dystrophy Tags
Green Green List (high evidence)	FKRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	FKTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen 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)	FLNC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Literature Phenotypes Myopathy, distal, 4, OMIM:614065 Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550 Myopathy, myofibrillar, 5, OMIM:609524 Myopathy, myofibrillar, 5, MONDO:0012289 Tags
Green Green List (high evidence)	GAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease II 232300 Tags
Green Green List (high evidence)	GMPPB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 Tags
Green Green List (high evidence)	GNE	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Yorkshire and North East GLH 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)	HNRNPDL	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Muscular dystrophy, limb-girdle, type 1G 609115 Limb girdle muscular dystrophy Tags
Green Green List (high evidence)	ISPD	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS South West GLH Yorkshire and North East GLH 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)	LAMA2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 congenital muscular dystroph Tags
Green Green List (high evidence)	LAMP2	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Danon disease, 300257 Tags
Green Green List (high evidence)	LMNA	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Emery-Dreifuss muscular dystrophy 2, AD, 181350 Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	LPIN1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Myoglobinuria, acute recurrent, autosomal recessive, 268200 myoglobinuria exercise induced myopathy Tags
Green Green List (high evidence)	MTM1	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 list Expert Review Expert Review Green Literature NHS GMS Yorkshire and North East GLH Phenotypes Myopathy, centronuclear, X-linked, OMIM:310400 Tags
Green Green List (high evidence)	MYH7	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Laing distal myopathy, OMIM:160500 Myopathy, myosin storage, autosomal dominant, OMIM:608358 Myopathy, myosin storage, autosomal recessive, OMIM:255160 Scapuloperoneal syndrome, myopathic type, OMIM:181430 Tags Q4_22_MOI
Green Green List (high evidence)	MYOT	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, myofibrillar, 3, OMIM:609200 Myopathy, spheroid body, OMIM:182920 Tags
Green Green List (high evidence)	ORAI1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Myopathy, tubular aggregate, 2, 615883 Tags
Green Green List (high evidence)	PFKM	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Glycogen storage disease VII, 232800 Tags
Green Green List (high evidence)	PHKA1	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Muscle glycogenosis, 300559 Tags
Green Green List (high evidence)	PLEC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723 Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 Tags
Green Green List (high evidence)	POMGNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen 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	7 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen South West GLH Yorkshire and North East GLH Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 limb girdle muscular dystrophy Tags
Green Green List (high evidence)	POMT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	POMT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen 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)	PYGM	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes McArdle disease, 232600 Tags
Green Green List (high evidence)	RYR1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 Central core disease, 117000 congenital myopathy malignant hyperthermia Tags
Green Green List (high evidence)	SELENON	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Muscular dystrophy, rigid spine, 1, OMIM:602771 Tags
Green Green List (high evidence)	SGCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, type 2D, 608099 Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	SGCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy, limb-girdle, type 2E, 604286 Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	SGCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy, limb-girdle, type 2F, 601287 Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	SGCG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy, limb-girdle, type 2C, 253700 Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	STIM1	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Myopathy, tubular aggregate, 1, 160565 Tags
Green Green List (high evidence)	SYNE1	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 Tags
Green Green List (high evidence)	SYNE2	8 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen South West GLH Yorkshire and North East GLH Phenotypes Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999 Tags
Green Green List (high evidence)	TCAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy, limb-girdle, type 2G, 601954 Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	TNPO3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 Tags
Green Green List (high evidence)	TOR1AIP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072 Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900 Tags
Green Green List (high evidence)	TRAPPC11	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, type 2S, 615356 Tags
Green Green List (high evidence)	TRIM32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy, limb-girdle, type 2H, 254110 Limb-girdle muscular dystrophy Tags
Green Green List (high evidence)	TTN	8 reviews 3 green 1 red	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 South West GLH Yorkshire and North East GLH 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)	VCP	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320 Tags
Green Green List (high evidence)	VMA21	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Myopathy, X-linked, with excessive autophagy, 310440 X-Linked myopathy with excessive autophagy Tags
Amber Amber List (moderate evidence)	ACTN2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Myopathy, distal, 6, adult onset, OMIM:618655 Tags Q2_23_promote_green watchlist_moi
Amber Amber List (moderate evidence)	BVES	8 reviews 3 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Muscular dystrophy, limb-girdle, type 2X, 616812 limb girdle muscular dystrophy cardiac arrhythmia Tags Q2_23_promote_green
Amber Amber List (moderate evidence)	CASQ1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 Tags Q2_23_promote_green
Amber Amber List (moderate evidence)	DPM3	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937 DPM3-congenital disorder of glycosylation, MONDO:0013049 ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15, MONDO:0033556 Tags Q4_22_promote_green
Amber Amber List (moderate evidence)	HMGCR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 28, OMIM:620375 Tags Q3_23_MOI Q3_23_promote_green
Amber Amber List (moderate evidence)	LRIF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Facioscapulohumeral muscular dystrophy Tags
Amber Amber List (moderate evidence)	PNPLA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neutral lipid storage disease with myopathy 610717 Tags Q2_23_promote_green
Amber Amber List (moderate evidence)	POGLUT1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232 autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977 Tags Q1_23_promote_green
Amber Amber List (moderate evidence)	POPDC3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848 Tags watchlist
Amber Amber List (moderate evidence)	PYROXD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Myopathy, myofibrillar, 8, 617258 adult-onset limb girdle muscular dystrophy Tags Q2_23_promote_green
Amber Amber List (moderate evidence)	SMCHD1	6 reviews 2 green 1 red	Other - please specifiy in evaluation comments	Sources Emory Genetics Laboratory Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen South West GLH UKGTN Yorkshire and North East GLH Phenotypes Fascioscapulohumeral muscular dystrophy 2, digenic 158901 fascioscapulohumeral muscular dystrophy Tags digenic
Red Red List (low evidence)	ACTA1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Myopathy, scapulohumeroperoneal, 616852 Tags
Red Red List (low evidence)	AGL	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Glycogen storage disease IIIb, 232400 Glycogen storage disease IIIc, 232400 Tags
Red Red List (low evidence)	ATP2A1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Brody myopathy, 601003 Tags
Red Red List (low evidence)	CHRND	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Myasthenic syndrome, congenital, 3A, slow-channel, 616321 Congenital myasthenic syndrome Tags
Red Red List (low evidence)	CLCN1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Myotonia congenita, dominant, 160800 Tags
Red Red List (low evidence)	COL12A1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Ullrich congenital muscular dystrophy 2, 616470 Bethlem myopathy Tags
Red Red List (low evidence)	COLQ	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Myasthenic syndrome, congenital, 5, 603034 Congenital myasthenic syndrome Tags
Red Red List (low evidence)	DNM2	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Centronuclear myopathy 1, 160150 Centronuclear myopathy Tags
Red Red List (low evidence)	DUX4	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red NHS GMS South West GLH Phenotypes Facioscapulohumeral muscular dystrophy, 158900 Tags
Red Red List (low evidence)	ETFDH	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Glutaric acidemia IIC, 231680 Glutaric acidemia IIA, 231680 Glutaric acidemia IIB, 231680 Tags
Red Red List (low evidence)	GBE1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Glycogen storage disease IV, OMIM:232500 Tags
Red Red List (low evidence)	GFPT1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 Congenital myasthenic syndrome Tags
Red Red List (low evidence)	GYG1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Glycogen storage disease XV, 613507 Tags
Red Red List (low evidence)	LIMS2	6 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS South West GLH Yorkshire and North East GLH Phenotypes Muscular dystrophy, limb-girdle, type 2W, 616827 limb girdle muscular dystrophy cardiomyopathy triangular tongue Tags
Red Red List (low evidence)	MATR3	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis 21, 606070 ALS myofibrillar myopathy Tags
Red Red List (low evidence)	MYH14	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 Tags
Red Red List (low evidence)	NEB	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Nemaline myopathy 2, autosomal recessive, 256030 congenital myopathy Tags
Red Red List (low evidence)	PGK1	3 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Phosphoglycerate kinase 1 deficiency, 300653 Tags
Red Red List (low evidence)	POLG	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 Tags
Red Red List (low evidence)	POMK	7 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Radboud University Medical Center, Nijmegen South West GLH Yorkshire and North East GLH Phenotypes ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094 limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101 Tags
Red Red List (low evidence)	RAPSN	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Fetal akinesia deformation sequence 1, 208150 Congenital myasthenic syndrome Limb-girdle muscular dystrophy Tags
Red Red List (low evidence)	SCN4A	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Hyperkalemic periodic paralysis, type 2, 170500 Hyperkalemic periodic paralysis Tags
Red Red List (low evidence)	SMN1	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Spinal muscular atrophy-4, 271150 Tags
Red Red List (low evidence)	TNNT3	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Arthrogryposis, distal, type 2B2, OMIM:618435 Arthrogryposis, distal, type 2B2, MONDO:0032750 Tags
Red Red List (low evidence)	TPM2	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Arthrogryposis multiplex congenita, distal, type 1, 108120 Tags
Red Red List (low evidence)	TPM3	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes CAP myopathy 1, 609284 Nemaline myopathy 1, autosomal dominant or recessive, 609284 Nemaline myopathy congenital myopathy Tags
No list No list	ABHD5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes OMIM 604780 (Chanarin-Dorfman syndrome) Tags

Major version comments

2023-03-22 15:34 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 13:40 Achchuthan Shanmugasundram (Genomics England Curator) 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.

2019-12-09 16:57 Louise Daugherty (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.185 - was 1.184 but had feedback for MOI for CRYAB so update was made to panel) was signed off under NHS Genomic Medicine Service governance on (09/12/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies (Version 4.24)

23 reviewers

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