PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
63 actions
Skeletal Muscle Channelopathies v1.1 Zornitza Stark HPO terms changed from to Periodic paralysis, HP:0003768; Myotonia, HP:0002486
List of related panels changed from to Periodic paralysis; HP:0003768; Myotonia; HP:0002486
Skeletal Muscle Channelopathies v1.0 Zornitza Stark promoted panel to version 1.0
Skeletal Muscle Channelopathies v0.24 KCNJ18 Zornitza Stark Marked gene: KCNJ18 as ready
Skeletal Muscle Channelopathies v0.24 KCNJ18 Zornitza Stark Gene: kcnj18 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v0.24 KCNJ2 Zornitza Stark Marked gene: KCNJ2 as ready
Skeletal Muscle Channelopathies v0.24 KCNJ2 Zornitza Stark Gene: kcnj2 has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.24 KCNJ2 Zornitza Stark Phenotypes for gene: KCNJ2 were changed from Hypokalemic Periodic Paralysis, Type 2; Periodic paralysis; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Andersen syndrome to Hypokalemic Periodic Paralysis, Type 2; Periodic paralysis; Andersen syndrome, MIM# 170390; Episodic weakness; Andersen syndrome
Skeletal Muscle Channelopathies v0.23 KCNJ2 Zornitza Stark Publications for gene: KCNJ2 were set to
Skeletal Muscle Channelopathies v0.22 KCNJ2 Zornitza Stark reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11371347, 12796536; Phenotypes: Andersen syndrome, MIM# 170390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Muscle Channelopathies v0.22 KCNA1 Zornitza Stark Marked gene: KCNA1 as ready
Skeletal Muscle Channelopathies v0.22 KCNA1 Zornitza Stark Gene: kcna1 has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.22 KCNA1 Zornitza Stark Publications for gene: KCNA1 were set to
Skeletal Muscle Channelopathies v0.21 KCNA1 Zornitza Stark Mode of pathogenicity for gene: KCNA1 was changed from to Other
Skeletal Muscle Channelopathies v0.20 KCNA1 Zornitza Stark Mode of inheritance for gene: KCNA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Muscle Channelopathies v0.19 CLCN1 Zornitza Stark Marked gene: CLCN1 as ready
Skeletal Muscle Channelopathies v0.19 CLCN1 Zornitza Stark Gene: clcn1 has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.19 CLCN1 Zornitza Stark Publications for gene: CLCN1 were set to
Skeletal Muscle Channelopathies v0.18 CLCN1 Zornitza Stark reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1379744, 7981750, 8533761; Phenotypes: Myotonia congenita, dominant 160800, Myotonia congenita, recessive 255700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Muscle Channelopathies v0.18 CACNA1S Zornitza Stark Marked gene: CACNA1S as ready
Skeletal Muscle Channelopathies v0.18 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.18 CACNA1S Zornitza Stark Publications for gene: CACNA1S were set to
Skeletal Muscle Channelopathies v0.17 CACNA1S Zornitza Stark reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: 8004673, 11591859; Phenotypes: Hypokalemic periodic paralysis, type 1, MIM# 170400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Muscle Channelopathies v0.16 KCNJ18 Bryony Thompson gene: KCNJ18 was added
gene: KCNJ18 was added to Skeletal Muscle Channelopathies. Sources: Expert list
Mode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ18 were set to 25882930; 27178871; 20074522; 27008341
Phenotypes for gene: KCNJ18 were set to Hypokalemic periodic paralysis; {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239
Review for gene: KCNJ18 was set to RED
Added comment: Single case reported with hypokalemic periodic paralysis without hyperthyroidism with G169R. Unsure, if this variant is specific to KCNJ18 due to high homology with KCNJ12 in this region.
Sources: Expert list
Skeletal Muscle Channelopathies v0.15 KCNE3 Bryony Thompson Marked gene: KCNE3 as ready
Skeletal Muscle Channelopathies v0.15 KCNE3 Bryony Thompson Gene: kcne3 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v0.15 KCNE3 Bryony Thompson gene: KCNE3 was added
gene: KCNE3 was added to Skeletal Muscle Channelopathies. Sources: Expert list
Mode of inheritance for gene: KCNE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNE3 were set to 14504341; 11207363; 16449802; 15037716; 20051516; 28356343
Phenotypes for gene: KCNE3 were set to Periodic paralysis
Review for gene: KCNE3 was set to RED
Added comment: The originally reported missense (R38H) that segregated with periodic paralysis in 2 families, is too common in gnomAD v2.1 for a variant associated with dominant disease (AF 0.003, 7 homozygotes). Kcne3(-/-) mice do not display periodic paralysis or other obvious skeletal muscle abnormalities.
Sources: Expert list
Skeletal Muscle Channelopathies v0.11 CASQ1 Zornitza Stark Marked gene: CASQ1 as ready
Skeletal Muscle Channelopathies v0.11 CASQ1 Zornitza Stark Gene: casq1 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v0.11 CASQ1 Zornitza Stark Phenotypes for gene: CASQ1 were changed from Myopathy, vacuolar, with casq1 aggregates to Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231
Skeletal Muscle Channelopathies v0.10 CASQ1 Zornitza Stark Classified gene: CASQ1 as Red List (low evidence)
Skeletal Muscle Channelopathies v0.10 CASQ1 Zornitza Stark Gene: casq1 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v0.9 CASQ1 Zornitza Stark reviewed gene: CASQ1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Muscle Channelopathies v0.9 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Skeletal Muscle Channelopathies v0.9 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v0.9 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Skeletal Muscle Channelopathies. Sources: Expert list
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A2 were set to 30423015
Phenotypes for gene: ATP1A2 were set to Hypokalaemic periodic paralysis
Review for gene: ATP1A2 was set to RED
Added comment: Gene is classically associated with brain phenotypes such as alternating hemiplegia, but single report of hypokalaemia periodic paralysis with supporting functional data.
Sources: Expert list
Skeletal Muscle Channelopathies v0.8 SCN4A Zornitza Stark Marked gene: SCN4A as ready
Skeletal Muscle Channelopathies v0.8 SCN4A Zornitza Stark Gene: scn4a has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.8 SCN4A Zornitza Stark Publications for gene: SCN4A were set to
Skeletal Muscle Channelopathies v0.7 SCN4A Zornitza Stark reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 8385748, 11591859; Phenotypes: Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Muscle Channelopathies v0.6 CACNB1 Zornitza Stark Marked gene: CACNB1 as ready
Skeletal Muscle Channelopathies v0.6 CACNB1 Zornitza Stark Gene: cacnb1 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v0.6 ATP2A1 Zornitza Stark Marked gene: ATP2A1 as ready
Skeletal Muscle Channelopathies v0.6 ATP2A1 Zornitza Stark Gene: atp2a1 has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.6 KCNJ5 Zornitza Stark Marked gene: KCNJ5 as ready
Skeletal Muscle Channelopathies v0.6 KCNJ5 Zornitza Stark Gene: kcnj5 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v0.6 CACNB1 Bryony Thompson Classified gene: CACNB1 as Red List (low evidence)
Skeletal Muscle Channelopathies v0.6 CACNB1 Bryony Thompson Gene: cacnb1 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v0.5 CACNB1 Bryony Thompson reviewed gene: CACNB1: Rating: RED; Mode of pathogenicity: None; Publications: 27832566, 8943043, 29212769; Phenotypes: Malignant hyperthermia; Mode of inheritance: Unknown
Skeletal Muscle Channelopathies v0.5 ATP2A1 Bryony Thompson Publications for gene: ATP2A1 were set to
Skeletal Muscle Channelopathies v0.4 KCNJ5 Bryony Thompson gene: KCNJ5 was added
gene: KCNJ5 was added to Skeletal Muscle Channelopathies. Sources: Expert list
Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ5 were set to 24574546
Phenotypes for gene: KCNJ5 were set to Andersen-Tawil Syndrome; periodic muscle paralysis
Review for gene: KCNJ5 was set to RED
Added comment: Only a single Japanese case with periodic muscle paralysis with no dysmorphic features, reported with the missense variant p.Gly387Arg. In vitro functional expression studies in Xenopus oocytes showed that coexpression of KCNJ2 with mutant KCNJ5 significantly reduced the inwardly rectifying potassium current compared to that observed with coexpression of KCNJ2 with wildtype KCNJ5. However, the East Asian allele frequency for this variant in gnomAD v2.1 is 0.00251 (50/19,924 alleles). Which is higher than would be expected for a dominantly inherited disorder.
Sources: Expert list
Skeletal Muscle Channelopathies v0.3 ATP2A1 Sebastian Lunke reviewed gene: ATP2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32040565; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Muscle Channelopathies v0.3 Zornitza Stark Panel types changed to Royal Melbourne Hospital; Rare Disease; Victorian Clinical Genetics Services
Skeletal Muscle Channelopathies v0.1 Bryony Thompson Panel name changed from Skeletal Muscle Channelopathies_RMH to Skeletal Muscle Channelopathies
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Skeletal Muscle Channelopathies v0.0 SCN4A Bryony Thompson gene: SCN4A was added
gene: SCN4A was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN4A were set to 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
Skeletal Muscle Channelopathies v0.0 RYR1 Bryony Thompson gene: RYR1 was added
gene: RYR1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RYR1 were set to Malignant hyperthermia
Skeletal Muscle Channelopathies v0.0 KCNJ2 Bryony Thompson gene: KCNJ2 was added
gene: KCNJ2 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ2 were set to Hypokalemic Periodic Paralysis, Type 2; Periodic paralysis; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Andersen syndrome
Skeletal Muscle Channelopathies v0.0 KCNA1 Bryony Thompson gene: KCNA1 was added
gene: KCNA1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNA1 were set to EA1; Episodic ataxia/myokymia syndrome, 160120; Myokymia; Episodic Ataxia; Episodic Ataxia, Type 1
Skeletal Muscle Channelopathies v0.0 CLCN1 Bryony Thompson gene: CLCN1 was added
gene: CLCN1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CLCN1 were set to Myotonia congenita, dominant, 160800; Hyperkalemic Periodic Paralysis; Myotonia Congenita; Myotonia; Myotonia congenita, recessive, 255700; Myotonia levior, recessive
Skeletal Muscle Channelopathies v0.0 CASQ1 Bryony Thompson gene: CASQ1 was added
gene: CASQ1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CASQ1 were set to Myopathy, vacuolar, with casq1 aggregates
Skeletal Muscle Channelopathies v0.0 CACNB1 Bryony Thompson gene: CACNB1 was added
gene: CACNB1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: CACNB1 was set to
Publications for gene: CACNB1 were set to 27832566; 8943043; 29212769
Phenotypes for gene: CACNB1 were set to ?Malignant hyperthermia susceptibility
Skeletal Muscle Channelopathies v0.0 CACNA1S Bryony Thompson gene: CACNA1S was added
gene: CACNA1S was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1S were set to Malignant hyperthermia susceptibility type 5; Hypokalemic periodic paralysis, type 1, 170400
Skeletal Muscle Channelopathies v0.0 ATP2A1 Bryony Thompson gene: ATP2A1 was added
gene: ATP2A1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP2A1 were set to Brody myopathy 601003
Skeletal Muscle Channelopathies v0.0 Bryony Thompson Added panel Skeletal Muscle Channelopathies_RMH