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 (version 2.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/232/?version=2.2) was signed off under NHS Genomic Medicine Service governance on (10/12/2019). 

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 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

6 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

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

35 Entities

35 reviewed, 26 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
  • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM: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
  • ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227
Tags
Green Green List (high evidence)
ALG2
5 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
  • Myasthenic syndrome, congenital, 14, with tubular aggregates, OMIM:616228
Tags
Green Green List (high evidence)
CHAT
5 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, OMIM:254210
Tags
Green Green List (high evidence)
CHRNA1
5 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, 1A, slow-channel, OMIM:601462
  • Myasthenic syndrome, congenital, 1B, fast-channel, OMIM:608930
Tags
Green Green List (high evidence)
CHRNB1
5 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, OMIM:616314
  • Myasthenic syndrome, congenital, 2A, slow-channel, OMIM:616313
Tags
  • deletions
Green Green List (high evidence)
CHRND
5 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, 3A, slow-channel, OMIM:616321
  • ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, OMIM:616323
  • Myasthenic syndrome, congenital, 3B, fast-channel, OMIM:616322
Tags
Green Green List (high evidence)
CHRNE
5 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, 4A, slow-channel, OMIM:605809
  • Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
Tags
Green Green List (high evidence)
CHRNG
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Wessex and West Midlands GLH
Phenotypes
  • transient neonatal myasthenia gravis, MONDO:0018326
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
  • Myasthenic syndrome, congenital, 19, OMIM:616720
Tags
Green Green List (high evidence)
COLQ
5 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
  • Myasthenic syndrome, congenital, 5, OMIM:603034
Tags
  • treatable
Green Green List (high evidence)
DOK7
5 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, OMIM:254300
Tags
  • treatable
Green Green List (high evidence)
DPAGT1
5 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
  • Myasthenic syndrome, congenital, 13, with tubular aggregates, OMIM:614750
Tags
Green Green List (high evidence)
GFPT1
5 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
  • Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542
Tags
Green Green List (high evidence)
GMPPB
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, MONDO:0018940
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
  • ?Myasthenic syndrome, congenital, 17, OMIM:616304
Tags
Green Green List (high evidence)
MUSK
5 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, OMIM:616325
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
  • Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198
  • Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597
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
  • Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS)
Tags
  • monogenic-polygenic
Green Green List (high evidence)
RAPSN
5 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
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326
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, OMIM:614198
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
  • Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239
Tags
Green Green List (high evidence)
SLC25A1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Myasthenic syndrome, congenital, 23, presynaptic, OMIM:618197
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
  • Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143
Tags
Green Green List (high evidence)
SYT2
5 reviews
2 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, OMIM:616040
Tags
Green Green List (high evidence)
VAMP1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Myasthenic syndrome, congenital, 25, OMIM:618323
Tags
Amber Amber List (moderate evidence)
TOR1AIP1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
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
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
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
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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