PanelApp (test)
  1. Panels
  2. Skeletal Muscle Channelopathies
Description
This panel contains genes that encode skeletal muscle channel proteins, and associated with malignant hyperthermia and periodic paralysis (hyperkalemic, hypokalemic/thyrotoxic, normokalemic potassium-sensitive)/congenital myotonia. It is maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.

This panel has been compared against the Genomics England PanelApp "Skeletal Muscle Channelopathy" panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 20/8/20.
Panel Activity

4 reviewers

  • Sebastian Lunke (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

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

  • Michelle Torres (Victorian Clinical Genetics Services)

13 Entities

13 reviewed, 7 green

List Entity Reviews Mode of inheritance Details
13 Entitiess
Green Green List (high evidence)
ATP2A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Brody myopathy 601003
Tags
Green Green List (high evidence)
CACNA1S
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Malignant hyperthermia susceptibility type 5
  • Hypokalemic periodic paralysis, type 1, 170400
Tags
Green Green List (high evidence)
CLCN1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myotonia congenita, dominant, 160800
  • Hyperkalemic Periodic Paralysis
  • Myotonia Congenita
  • Myotonia
  • Myotonia congenita, recessive, 255700
  • Myotonia levior, recessive
Tags
Green Green List (high evidence)
KCNA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • EA1
  • Episodic ataxia/myokymia syndrome, 160120
  • Myokymia
  • Episodic Ataxia
  • Episodic Ataxia, Type 1
Tags
Green Green List (high evidence)
KCNJ2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hypokalemic Periodic Paralysis, Type 2
  • Periodic paralysis
  • Andersen syndrome, MIM# 170390
  • Episodic weakness
  • Andersen syndrome
Tags
Green Green List (high evidence)
RYR1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Malignant hyperthermia
Tags
Green Green List (high evidence)
SCN4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hyperkalemic Periodic Paralysis
  • Hypokalemic periodic paralysis, type 2, 613
  • Thyrotoxic Periodic Paralysis, Susceptibility To, 2
  • Hypokalemic Periodic Paralysis
  • Episodic weakness
  • Myotonia
  • Potassium-Aggravated Myotonia
  • Hyperkalemic periodic paralysis, type 2, 170500
  • Myasthenic syndrome, acetazolamide-responsive, 614198
Tags
Red Red List (low evidence)
ATP1A2
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Hypokalaemic periodic paralysis
Tags
Red Red List (low evidence)
CACNB1
2 reviews
1 red 		Not set
Sources
  • Expert list
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • ?Malignant hyperthermia susceptibility
Tags
Red Red List (low evidence)
CASQ1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231
Tags
Red Red List (low evidence)
KCNE3
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Periodic paralysis
Tags
Red Red List (low evidence)
KCNJ18
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Red
Phenotypes
  • Hypokalemic periodic paralysis
  • {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239
Tags
Red Red List (low evidence)
KCNJ5
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Andersen-Tawil Syndrome
  • periodic muscle paralysis
Tags

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