Distal myopathies (Version 3.16)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Description

This panel is a component of super panels 'Neuromuscular disorders' (panel id 465) and 'Hypotonic infant' (panel id 490); it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

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.

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

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

Panel Activity

11 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (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
Dmitrijs Rots (Children's Clinical University Hospital)

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

Group: Other
Workplace: Other
Mafalda Gomes (Genomics England Curator)

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

Group: Other
Workplace: Other

33 Entities

33 reviewed, 24 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 33 Entitiess
Green Green List (high evidence)	ACTA1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 Tags
Green Green List (high evidence)	ADSSL1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes Myopathy, distal, 5, OMIM:617030 Tags new-gene-name
Green Green List (high evidence)	ANO5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Miyoshi muscular dystrophy 3, 613319 Tags
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)	BAG3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes myofibrillar myopathy 6, 612954 Tags
Green Green List (high evidence)	CRYAB	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green NHS GMS Phenotypes Myopathy, myofibrillar, 2, OMIM:608810 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 Tags
Green Green List (high evidence)	DES	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes Myopathy, myofibrillar 1, 601419 Tags
Green Green List (high evidence)	DNAJB6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes limb-girdle muscular dystrophy type 1E, 603511 Tags
Green Green List (high evidence)	DNM2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Centronuclear myopathy 1, OMIM:160150 Tags
Green Green List (high evidence)	DYSF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Miyoshi muscular dystrophy 1, 254130 Tags
Green Green List (high evidence)	FHL1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green Phenotypes Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 Tags
Green Green List (high evidence)	FLNC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green 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)	GNE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Nonaka myopathy, 605820 Tags
Green Green List (high evidence)	HSPB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neuropathy, distal hereditary motor type IIB, 608634 Tags
Green Green List (high evidence)	HSPB8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Neuropathy, distal hereditary motor type IIA, 158590 distal myopathy Tags
Green Green List (high evidence)	LDB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes Myopathy, myofibrillar 4, 609452 Tags
Green Green List (high evidence)	MATR3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Distal Myopathy Tags
Green Green List (high evidence)	MYH7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Laing distal myopathy, OMIM:160500 Laing early-onset distal myopathy, MONDO:0008050 Scapuloperoneal syndrome, myopathic type, OMIM:181430 MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409 Tags
Green Green List (high evidence)	MYOT	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes Myopathy, myofibrillar, 3, OMIM:609200 Myopathy, spheroid body, OMIM:182920 Tags
Green Green List (high evidence)	NEB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Nemaline myopathy 2, 256030 Tags
Green Green List (high evidence)	SQSTM1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Dystal Myopathy with rimmed vacuoles, 617158 Tags
Green Green List (high evidence)	TIA1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Welander distal myopathy, 604454 Tags
Green Green List (high evidence)	TTN	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Tibial muscular dystrophy, tardive, 600334 Tags
Green Green List (high evidence)	VCP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 Tags
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)	SMPX	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Myopathy, distal, 7, adult-onset, X-linked, OMIM:301075 myopathy, distal, 7, adult-onset, X-linked, MONDO:0024771 Tags Q3_23_MOI Q3_23_promote_green
Red Red List (low evidence)	CNBP	3 reviews 1 green 1 red	Other	Sources Expert Review Expert Review Red NHS GMS Phenotypes Myotonic dystrophy 2, OMIM:602668 Myotonic dystrophy type 2, MONDO:0011266 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	CNBP_CCTG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red NHS GMS Phenotypes Myotonic dystrophy 2, OMIM:602668 Myotonic dystrophy type 2, MONDO:0011266 Tags NGS Not Validated STR
Red Red List (low evidence)	DMD	1 review	Not set	Sources Eligibility statement prior genetic testing Expert Review Red Tags Skewed X-inactivation
Red Red List (low evidence)	DMPK	2 reviews 1 green	Other	Sources Eligibility statement prior genetic testing Expert Review Red Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	DUX4	1 review	Not set	Sources Eligibility statement prior genetic testing Expert Review Red Phenotypes FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A) Tags
Red Red List (low evidence)	GIPC1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Oculopharyngodistal myopathy 2, OMIM:618940 oculopharyngodistal myopathy 2, MONDO:0030134 Tags STR
Red Red List (low evidence)	KLHL9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes distal myopathy (no OMIM number) Tags

Major version comments

2023-03-22 14:56 Eleanor Williams (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.

2022-11-30 13:41 Catherine Snow (Genomics England) promoted panel to 2.0
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 (2.0) following this

Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.

Distal myopathies (Version 3.16)

11 reviewers

33 Entities

33 reviewed, 24 green

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