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  2. Congenital Myasthenia

Congenital Myasthenia (Version 1.10)

Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Fatiguable weakness HP:0003473;Hypotonia HP:0001252
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel was created by merging the Congenital Myasthenia panels developed by the Royal Melbourne Hospital and by the Victorian Clinical Genetics Services.

This panel has been compared against the Genomics England 'Congenital myasthenic syndrome' panel V2.2, with all discrepancies resolved and reciprocal provided to Genomics England.
Panel Activity

4 reviewers

  • Gina Ravenscroft (Harry Perkins Institute of Medical Research)

  • Kunal Verma (Royal Melbourne Hospital)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

33 Entities

33 reviewed, 23 green

List Entity Reviews Mode of inheritance Details
33 Entitiess
Green List (high evidence)
AGRN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120
Tags
  • clinical trial
  • treatable
Green List (high evidence)
CHAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Congenital myasthenics syndrome associated with episodic apnea
  • Myasthenic syndrome, congenital, 6, presynaptic, 254210
Tags
  • treatable
Green List (high evidence)
CHRNA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 1B, fast-channel, 608930
  • Myasthenic syndrome, congenital, 1A, slow-channel, 601462
Tags
  • treatable
Green List (high evidence)
CHRNB1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, slow-channel congenital, 601462
  • Myasthenic syndrome, congenital, 2A, slow-channel, 616313
  • ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Tags
Green List (high evidence)
CHRND
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322
  • Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323
  • Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321
Tags
  • treatable
Green List (high evidence)
CHRNE
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 4B, fast-channel, 616324
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931
  • Myasthenic syndrome, slow-channel congenital, 601462
  • Myasthenic syndrome, congenital, 4A, slow-channel, 605809
Tags
  • treatable
Green List (high evidence)
CHRNG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Multiple pterygium syndrome, lethal type, MIM# 253290
  • fetal akinesia deformation sequence syndrome/FADS
  • Neonatal congenital myasthenia
  • Escobar syndrome
  • Myasthenia gravis, neonatal transient
Tags
Green List (high evidence)
COL13A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 19, 616720
Tags
  • treatable
Green List (high evidence)
COLQ
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 5, MIM# 603034
  • Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency
Tags
  • clinical trial
  • treatable
Green List (high evidence)
DOK7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 10, 254300
  • Myasthenia, limb-girdle, familial
Tags
Green List (high evidence)
DPAGT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750
  • Limb girdle congenital myasthenic
  • Congenital disorder of glycosylation, type Ij, 608093
Tags
Green List (high evidence)
GFPT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates, 610542
  • Limb-girdle congenital myasthenic syndrome
Tags
Green List (high evidence)
GMPPB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome
Tags
Green List (high evidence)
LRP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 17, 616304
Tags
Green List (high evidence)
MUSK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325
Tags
  • treatable
Green List (high evidence)
PLEC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • epidermolysis bullosa
  • congenital myasthenic syndrome
Tags
Green List (high evidence)
RAPSN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326
  • acute respiratory crises
  • late and early onset
Tags
  • founder
  • SV/CNV
Green List (high evidence)
SCN4A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 16, 614198
Tags
Green List (high evidence)
SLC18A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • ophthalmopleggia and apnea
  • Myasthenic syndrome, congenital, 21, presynaptic, 617239
Tags
Green List (high evidence)
SLC25A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • ?Myasthenic syndrome, congenital, 23, presynaptic
  • 618197
Tags
Green List (high evidence)
SLC5A7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 20, presynaptic, 617143
  • Hereditory motor neuropathy
Tags
Green List (high evidence)
SYT2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040
  • Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461
Tags
Green List (high evidence)
VAMP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • presynaptic CMS
  • Myasthenic syndrome, congenital, 25, MIM# 618323
Tags
Amber List (moderate evidence)
ALG14
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
Tags
Amber List (moderate evidence)
ALG2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228
Tags
  • founder
Amber List (moderate evidence)
MYO9A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Congenital myasthenic syndrome 24, presynaptic 618198
Tags
Amber List (moderate evidence)
PREPL
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency
  • ?Myasthenic syndrome, congenital, 22, 616224
Tags
Amber List (moderate evidence)
TOR1AIP1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Congenital myasthenic syndrome
Tags
Red List (low evidence)
LAMA5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Presynaptic congenital myasthenic syndrome
Tags
Red List (low evidence)
LAMB2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Pierson syndrome, MIM# 609049
  • congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations
Tags
Red List (low evidence)
RPH3A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis
Tags
Red List (low evidence)
SNAP25
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • ?Myasthenic syndrome, congenital, 18, 616330
Tags
Red List (low evidence)
UNC13A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • microcephaly, cortical hyperexcitability, and fatal myasthenia
  • dyskinesia
  • autism
  • developmental delay
Tags

Major version comments

  • 2020-10-26 09:56 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Fully reviewed and promoted to V1.

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  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
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  • Red list (low evidence)

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