Description
This panel is used for clinical indication 'R80 Congenital myaesthenic syndrome' 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 'R80 Congenital myaesthenic syndrome'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

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

5 reviewers

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • David Beeson (Oxford University)

    Group: Other
    Workplace: Research lab

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Michael Oldridge (NHS)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

35 Entities

35 reviewed, 25 green

List Entity Reviews Mode of inheritance Details
35 Entitiess
Green Green List (high evidence)
AGRN
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital myasthenic syndrome
  • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120
Tags
Green Green List (high evidence)
ALG14
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital myasthenic syndrome
  • ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
Tags
Green Green List (high evidence)
ALG2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital myasthenic syndromes
  • Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228
  • Congenital disorder of glycosylation CDG type Ii, 607906
Tags
Green Green List (high evidence)
CHAT
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Wessex and West Midlands GLH
Phenotypes
  • Myasthenic syndrome, congenital, 6, presynaptic, 254210
  • Congenital myasthenics sndrome associated with episodic apnea
  • CMS-EA
Tags
Green Green List (high evidence)
CHRNA1
4 reviews
2 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
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital Myasthenic Syndrome, Dominant/Recessive
  • Myasthenic syndrome, congenital, 1A, slow-channel, 601462
  • Myasthenic syndrome, congenital, 1B, fast-channel, 608930
  • Slow channel myasthenic syndrome
  • fast channel myasthenic syndrome
  • Acetylcholine receptor deficiency syndrome
Tags
Green Green List (high evidence)
CHRNB1
4 reviews
2 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
  • Wessex and West Midlands GLH
Phenotypes
  • ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
  • Myasthenic syndrome, congenital, 2A, slow-channel, 616313
  • Slow channel myasthenic syndrome
  • fast channel myasthenic syndrome
  • Acetylcholine receptor deficiency syndrome
  • Myasthenic syndrome, slow-channel congenital, 601462
  • Congenital Myasthenic Syndrome, Dominant/Recessive
Tags
  • deletions
Green Green List (high evidence)
CHRND
4 reviews
2 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
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital Myasthenic Syndrome, Dominant/Recessive
  • Myasthenic syndrome, slow-channel congenital, 601462
  • Slow channel myasthenic syndrome
  • fast channel myasthenic syndrome
  • Acetylcholine receptor deficiency syndrome
  • ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321
  • ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323
  • Myasthenic syndrome, congenital, 3B, fast-channel, 616322
Tags
Green Green List (high evidence)
CHRNE
4 reviews
2 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
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital Myasthenic Syndrome, Dominant/Recessive
  • Myasthenic syndrome, slow-channel congenital, 601462
  • Myasthenic syndrome, congenital, 4A, slow-channel, 605809
  • Myasthenic syndrome, congenital, 4B, fast-channel, 616324
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931
  • Slow channel myasthenic syndrome
  • fast channel myasthenic syndrome
  • Acetylcholine receptor deficiency syndrome
  • Reduced channel conductance syndrome
Tags
Green Green List (high evidence)
CHRNG
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Wessex and West Midlands GLH
Phenotypes
  • Myasthenia gravis, neonatal transient
  • Neonatal congenital myasthenia
  • escobar syndrome
  • fetal akinesia deformation sequence syndrome/FADS
  • multiple pterygium syndrome/MPS
Tags
Green Green List (high evidence)
COL13A1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital myasthenic syndrome type 19
  • Myasthenic syndrome, congenital, 19, 616720
Tags
Green Green List (high evidence)
COLQ
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital Myasthenic Syndrome, Recessive
  • Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency
  • Myasthenic syndrome, congenital, 5, 603034
Tags
  • treatable
Green Green List (high evidence)
DOK7
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Wessex and West Midlands GLH
Phenotypes
  • Myasthenic syndrome, congenital, 10, 254300
  • Myasthenia, limb-girdle, familial
  • Limb girdle congenital myasthenic syndrome
Tags
  • treatable
Green Green List (high evidence)
DPAGT1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type Ij, 608093
  • Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750
  • Limb girdle congenital myasthenic
  • tubular aggregates
  • congenital disorder of glycosylation type Ij (CDG-IJ)
Tags
Green Green List (high evidence)
GFPT1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital Myasthenic Syndrome, Recessive
  • Myasthenia, congenital, 12, with tubular aggregates, 610542
  • Limb-girdle congenital myasthenic syndrome
  • tubular aggregates
Tags
Green Green List (high evidence)
GMPPB
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital Myasthenic Syndrome
  • muscular dystrophy-dystroglycanopathy
  • congenital muscular dystrophy with mental retardation
  • GMPPB-CMS
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome
  • MDDGC14 with features of CMS
Tags
Green Green List (high evidence)
LRP4
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital myasthenic syndrome
  • Myasthenic syndrome, congenital, 17, 616304
Tags
Green Green List (high evidence)
MUSK
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Wessex and West Midlands GLH
Phenotypes
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325
  • Congenital Myasthenic Syndrome, Recessive
  • Congenital myasthenic syndrome
Tags
  • deletions
Green Green List (high evidence)
MYO9A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • congenital myasthenic syndrome 24, presynaptic 618198
  • CMS
Tags
Green Green List (high evidence)
PLEC
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital myasthenic syndrome
  • Plectin deficiency
  • myasthenic syndrome
  • Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS)
Tags
  • monogenic-polygenic
Green Green List (high evidence)
RAPSN
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital Myasthenic Syndrome, Recessive
  • Congenital myasthenic syndrome
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326
  • acute respiratory crises
  • late and early onset
Tags
Green Green List (high evidence)
SCN4A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Wessex and West Midlands GLH
Phenotypes
  • Myasthenic syndrome, congenital, 16, 614198
  • Congenital Myasthenic Syndrome, Recessive
  • congenital myasthenic syndromes
Tags
Green Green List (high evidence)
SLC18A3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital myasthenic syndrome
  • ophthalmopleggia and apnea
  • Myasthenic syndrome, congenital, 21, presynaptic, 617239
Tags
Green Green List (high evidence)
SLC5A7
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital myasthenic syndrome
  • Hereditory motor neuropathy
  • Myasthenic syndrome, congenital, 20, presynaptic, 617143
Tags
Green Green List (high evidence)
SYT2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Wessex and West Midlands GLH
Phenotypes
  • Myasthenic syndrome, congenital, 7, presynaptic, 616040
Tags
Green Green List (high evidence)
VAMP1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital myasthenic syndrome
  • presynaptic CMS
Tags
  • watchlist
Amber Amber List (moderate evidence)
SLC25A1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Myasthenic syndrome, congenital, 23, presynaptic
  • 618197
Tags
Red Red List (low evidence)
CACNA1A
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • episodic ataxia plus myasthenic syndrome
  • hemiplegic migraine plus disturbed NMJ function
Tags
Red Red List (low evidence)
LAMA5
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • myopia, facial tics, and failure of neuromuscular transmission
Tags
Red Red List (low evidence)
LAMB2
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital myasthenic syndrome
  • congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations
  • synaptic congenital myasthenic syndrome
Tags
Red Red List (low evidence)
PREPL
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • myasthenic syndrome
  • congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency
  • ?Myasthenic syndrome, congenital, 22, 616224
Tags
  • deletions
  • polygenic
  • treatable
Red Red List (low evidence)
RYR1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • RYR1-related congenital myopathy
Tags
Red Red List (low evidence)
SNAP25
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • NHS GMS
  • Other
  • Wessex and West Midlands GLH
Phenotypes
  • ?Myasthenic syndrome, congenital, 18, 616330
Tags
Red Red List (low evidence)
SYT15
2 reviews
1 red
Not set
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
Tags
Red Red List (low evidence)
TOR1AIP1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072
Tags
Red Red List (low evidence)
UNC13A
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
Tags

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