PanelApp
  1. Panels
  2. Congenital Myasthenia
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

8 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Kunal Verma (Royal Melbourne Hospital)

  • Gina Ravenscroft (Harry Perkins Institute of Medical Research)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Maggie Yau (Prince of Wales Hospital, Hong Kong)

37 Entities

37 reviewed, 26 green

List Entity Reviews Mode of inheritance Details
37 Entitiess
Green 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 Green List (high evidence)
ALG14
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
  • Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031
  • Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036
  • Disorder of N-glycosylation
Tags
Green Green List (high evidence)
ALG2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228
Tags
  • founder
Green 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)
PURA
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)
Tags
Green 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 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 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 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 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 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 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 Amber List (moderate evidence)
MACF1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital myasthenic syndrome, MONDO:0018940, MACF1-related
Tags
Amber 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 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 Amber List (moderate evidence)
TOR1AIP1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Congenital myasthenic syndrome
Tags
Amber Amber List (moderate evidence)
UNC50
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • arthrogryposis multiplex congenita MONDO:0015168
  • congenital myasthenic syndrome MONDO:0018940
Tags
Red Red List (low evidence)
CHD8
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Complex neurodevelopmental disorder MONDO:0100038
Tags
Red 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 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 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 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 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

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