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Skeletal muscle channelopathy v3.5 CNBP_CCTG Sarah Leigh Classified STR: CNBP_CCTG as Amber List (moderate evidence)
Skeletal muscle channelopathy v3.5 CNBP_CCTG Sarah Leigh Str: cnbp_cctg has been classified as Amber List (Moderate Evidence).
Skeletal muscle channelopathy v3.4 CNBP Sarah Leigh Tag currently-ngs-unreportable was removed from gene: CNBP.
Skeletal muscle channelopathy v3.4 CNBP_CCTG Sarah Leigh Classified STR: CNBP_CCTG as Amber List (moderate evidence)
Skeletal muscle channelopathy v3.4 CNBP_CCTG Sarah Leigh Str: cnbp_cctg has been classified as Amber List (Moderate Evidence).
Skeletal muscle channelopathy v3.3 CNBP_CCTG Sarah Leigh Tag NGS Not Validated was removed from STR: CNBP_CCTG.
Tag Q1_24_promote_green tag was added to STR: CNBP_CCTG.
Skeletal muscle channelopathy v3.3 CNBP_CCTG Sarah Leigh Deleted their comment
Skeletal muscle channelopathy v3.3 CNBP_CCTG Sarah Leigh commented on STR: CNBP_CCTG: As STR: CNBP_CCTG has been reviewed and confirmed by the NHS Genomic Medicine Service, it can be rated as Green on this panel.
Skeletal muscle channelopathy v3.3 CNBP_CCTG Sarah Leigh reviewed STR: CNBP_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal muscle channelopathy v3.1 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8.
Skeletal muscle channelopathy v3.1 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Skeletal muscle channelopathy v3.1 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Skeletal muscle channelopathy v3.1 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Skeletal muscle channelopathy v3.1 Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2023-03-22
Skeletal muscle channelopathy v3.0 Achchuthan Shanmugasundram promoted panel to version 3.0
Skeletal muscle channelopathy v2.4 PYGM Arina Puzriakova Tag Q2_21_rating was removed from gene: PYGM.
Tag Q2_21_phenotype was removed from gene: PYGM.
Tag Q2_21_expert_review was removed from gene: PYGM.
Skeletal muscle channelopathy v2.4 SLC2A1 Arina Puzriakova Tag Q2_21_rating was removed from gene: SLC2A1.
Tag Q2_21_phenotype was removed from gene: SLC2A1.
Tag Q2_21_expert_review was removed from gene: SLC2A1.
Skeletal muscle channelopathy v2.4 SLC1A3 Arina Puzriakova Tag Q2_21_rating was removed from gene: SLC1A3.
Tag Q2_21_phenotype was removed from gene: SLC1A3.
Tag Q2_21_expert_review was removed from gene: SLC1A3.
Skeletal muscle channelopathy v2.4 CACNA1A Arina Puzriakova Tag Q2_21_rating was removed from gene: CACNA1A.
Tag Q2_21_phenotype was removed from gene: CACNA1A.
Tag Q2_21_expert_review was removed from gene: CACNA1A.
Skeletal muscle channelopathy v2.4 ATP1A2 Arina Puzriakova Tag Q2_21_rating was removed from gene: ATP1A2.
Tag Q2_21_phenotype was removed from gene: ATP1A2.
Tag Q2_21_expert_review was removed from gene: ATP1A2.
Skeletal muscle channelopathy v2.4 PYGM Arina Puzriakova commented on gene: PYGM
Skeletal muscle channelopathy v2.4 SLC2A1 Arina Puzriakova reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v2.4 SLC1A3 Arina Puzriakova reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v2.4 CACNA1A Arina Puzriakova reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v2.4 ATP1A2 Arina Puzriakova reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v2.3 SLC2A1 Arina Puzriakova Source Expert Review Red was added to SLC2A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Skeletal muscle channelopathy v2.3 SLC1A3 Arina Puzriakova Source Expert Review Red was added to SLC1A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Skeletal muscle channelopathy v2.3 CACNA1A Arina Puzriakova Source Expert Review Red was added to CACNA1A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Skeletal muscle channelopathy v2.3 ATP1A2 Arina Puzriakova Source Expert Review Red was added to ATP1A2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Skeletal muscle channelopathy v2.2 CNBP_CCTG Arina Puzriakova Classified STR: CNBP_CCTG as Red List (low evidence)
Skeletal muscle channelopathy v2.2 CNBP_CCTG Arina Puzriakova Str: cnbp_cctg has been classified as Red List (Low Evidence).
Skeletal muscle channelopathy v2.1 CNBP_CCTG Arina Puzriakova Tag Q4_21_expert_review was removed from STR: CNBP_CCTG.
Tag Q4_21_rating was removed from STR: CNBP_CCTG.
Skeletal muscle channelopathy v2.1 CNBP_CCTG Arina Puzriakova edited their review of STR: CNBP_CCTG: Added comment: The rating of this STR has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED
Skeletal muscle channelopathy v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-11-30
Skeletal muscle channelopathy v2.0 Arina Puzriakova promoted panel to version 2.0
Skeletal muscle channelopathy v1.39 SLC2A1 Eleanor Williams Tag Q2_21_rating tag was added to gene: SLC2A1.
Tag Q2_21_expert_review tag was added to gene: SLC2A1.
Skeletal muscle channelopathy v1.39 SLC1A3 Eleanor Williams Tag Q2_21_rating tag was added to gene: SLC1A3.
Tag Q2_21_expert_review tag was added to gene: SLC1A3.
Skeletal muscle channelopathy v1.39 PYGM Eleanor Williams Tag Q2_21_rating tag was added to gene: PYGM.
Tag Q2_21_expert_review tag was added to gene: PYGM.
Skeletal muscle channelopathy v1.39 CACNA1A Eleanor Williams Tag Q2_21_rating tag was added to gene: CACNA1A.
Tag Q2_21_expert_review tag was added to gene: CACNA1A.
Skeletal muscle channelopathy v1.39 ATP1A2 Eleanor Williams Tag Q2_21_rating tag was added to gene: ATP1A2.
Tag Q2_21_expert_review tag was added to gene: ATP1A2.
Skeletal muscle channelopathy v1.39 CNBP_CCTG Eleanor Williams commented on STR: CNBP_CCTG: Added the tag of Q4_21_rating as this STR only had an expert review tag and would not be picked up for a GMS report with just that.
Skeletal muscle channelopathy v1.39 CNBP_CCTG Eleanor Williams Tag Q4_21_rating tag was added to STR: CNBP_CCTG.
Skeletal muscle channelopathy v1.39 MT-ATP8 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP8.
Skeletal muscle channelopathy v1.39 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
Skeletal muscle channelopathy v1.39 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Skeletal muscle channelopathy v1.39 CNBP_CCTG Eleanor Williams commented on STR: CNBP_CCTG
Skeletal muscle channelopathy v1.37 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Skeletal muscle channelopathy v1.37 CNBP_CCTG Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
Source NHS GMS was added to STR: CNBP_CCTG.
Skeletal muscle channelopathy v1.36 DMPK_CTG Arina Puzriakova Tag STR tag was added to STR: DMPK_CTG.
Skeletal muscle channelopathy v1.36 DMPK Arina Puzriakova Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1, 160900 to Myotonic dystrophy 1, OMIM:160900
Skeletal muscle channelopathy v1.35 DMPK Arina Puzriakova Mode of pathogenicity for gene: DMPK was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal muscle channelopathy v1.34 DMPK Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Skeletal muscle channelopathy v1.34 DMPK Arina Puzriakova Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Skeletal muscle channelopathy v1.33 DMPK Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: DMPK.
Tag currently-ngs-unreportable tag was added to gene: DMPK.
Skeletal muscle channelopathy v1.33 CNBP_CCTG Arina Puzriakova commented on STR: CNBP_CCTG
Skeletal muscle channelopathy v1.33 CNBP_CCTG Arina Puzriakova Tag Q4_21_expert_review tag was added to STR: CNBP_CCTG.
Skeletal muscle channelopathy v1.33 CNBP Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Skeletal muscle channelopathy v1.33 CNBP Arina Puzriakova Mode of inheritance for gene: CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Skeletal muscle channelopathy v1.32 CACNA1A Arina Puzriakova Phenotypes for gene: CACNA1A were changed from Episodic ataxia 2 with periodic paralysis; Epileptic encephalopathy, early infantile, 42 OMIM:617106; Migraine, familial hemiplegic, 1 OMIM:141500; Episodic ataxia, type 2 OMIM:108500 to Episodic ataxia, type 2, OMIM:108500; Migraine, familial hemiplegic, 1, OMIM:141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Skeletal muscle channelopathy v1.31 PYGM Eleanor Williams Tag Q2_21_rating was removed from gene: PYGM.
Skeletal muscle channelopathy v1.31 PYGM Eleanor Williams changed review comment from: Comment on list classification: Leaving the rating as green, but with a recommendation for a red rating following GMS review because this gene encodes an enzyme not a channel. However, the phenotype may overlap with channelopathies.; to: Comment on list classification: Leaving rating as Green but with a recommendation for review by the GMS test evaluation group as to suitability for this panel. This gene encodes an enzyme not a channel. However, the phenotype may overlap with channelopathies.
Skeletal muscle channelopathy v1.31 SLC2A1 Eleanor Williams changed review comment from: Comment on list classification: Leaving this gene green but with a recommendation for a red rating following GMS review as to whether it is useful to have this gene on panel although variants seem to result in a brain channelopathy rather than a skeletal muscle one; to: Comment on list classification: Leaving rating as Green but with a recommendation for review by the GMS test evaluation group as to suitability for this panel. Variants seem to result in a brain channelopathy rather than a skeletal muscle one
Skeletal muscle channelopathy v1.31 SLC2A1 Eleanor Williams Tag Q2_21_rating was removed from gene: SLC2A1.
Skeletal muscle channelopathy v1.31 SLC1A3 Eleanor Williams changed review comment from: Comment on list classification: Leaving the rating as Green but with a recommendation for red rating following GMS review as to whether it is useful to have this gene on panel although variants seem to result in a brain channelopathy rather than a skeletal muscle one.; to: Comment on list classification: Leaving rating as Green but with a recommendation for review by the GMS test evaluation group as to suitability for this panel. Variants seem to result in a brain channelopathy rather than a skeletal muscle one.
Skeletal muscle channelopathy v1.31 SLC1A3 Eleanor Williams Tag Q2_21_rating was removed from gene: SLC1A3.
Skeletal muscle channelopathy v1.31 CACNA1A Eleanor Williams Tag Q2_21_rating was removed from gene: CACNA1A.
Skeletal muscle channelopathy v1.31 ATP1A2 Eleanor Williams Tag Q2_21_rating was removed from gene: ATP1A2.
Skeletal muscle channelopathy v1.31 CACNA1A Eleanor Williams changed review comment from: Comment on list classification: Leaving rating as green but with a recommendation for red rating following GMS review. As reported by Zornitza Stark variants in this gene appear to be associated with brain channelopathies rather than skeletal muscle.; to: Comment on list classification: Leaving rating as Green but with a recommendation for review by the GMS test evaluation group as to suitability for this panel. As reported by Zornitza Stark variants in this gene appear to be associated with brain channelopathies rather than skeletal muscle.
Skeletal muscle channelopathy v1.31 ATP1A2 Eleanor Williams changed review comment from: Comment on list classification: Leaving rating as Green but with a recommendation of a red rating following GMS review, as there is only one case reported associated with a skeletal muscle phenotype.; to: Comment on list classification: Leaving rating as Green but with a recommendation for review by GMS evaluation group as to suitability for this panel. There is only one case reported associated with a skeletal muscle phenotype.
Skeletal muscle channelopathy v1.31 DMPK_CTG Arina Puzriakova Phenotypes for STR: DMPK_CTG were changed from Myotonic dystrophy 1, 16090 to Myotonic dystrophy 1, OMIM:160900
Skeletal muscle channelopathy v1.30 PYGM Eleanor Williams Tag Q2_21_phenotype tag was added to gene: PYGM.
Skeletal muscle channelopathy v1.30 SLC2A1 Eleanor Williams Classified gene: SLC2A1 as Green List (high evidence)
Skeletal muscle channelopathy v1.30 SLC2A1 Eleanor Williams Added comment: Comment on list classification: Leaving this gene green but with a recommendation for a red rating following GMS review as to whether it is useful to have this gene on panel although variants seem to result in a brain channelopathy rather than a skeletal muscle one
Skeletal muscle channelopathy v1.30 SLC2A1 Eleanor Williams Gene: slc2a1 has been classified as Green List (High Evidence).
Skeletal muscle channelopathy v1.29 SLC2A1 Eleanor Williams Tag Q2_21_rating tag was added to gene: SLC2A1.
Tag Q2_21_phenotype tag was added to gene: SLC2A1.
Skeletal muscle channelopathy v1.29 SLC2A1 Eleanor Williams reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal muscle channelopathy v1.29 SLC1A3 Eleanor Williams Classified gene: SLC1A3 as Green List (high evidence)
Skeletal muscle channelopathy v1.29 SLC1A3 Eleanor Williams Added comment: Comment on list classification: Leaving the rating as Green but with a recommendation for red rating following GMS review as to whether it is useful to have this gene on panel although variants seem to result in a brain channelopathy rather than a skeletal muscle one.
Skeletal muscle channelopathy v1.29 SLC1A3 Eleanor Williams Gene: slc1a3 has been classified as Green List (High Evidence).
Skeletal muscle channelopathy v1.28 SLC1A3 Eleanor Williams Phenotypes for gene: SLC1A3 were changed from Episodic ataxia, type 6, 612656 to Episodic ataxia, type 6, OMIM:612656; episodic ataxia type 6, MONDO:0012982
Skeletal muscle channelopathy v1.27 SLC1A3 Eleanor Williams Publications for gene: SLC1A3 were set to 19139306
Skeletal muscle channelopathy v1.26 SLC1A3 Eleanor Williams Tag Q2_21_phenotype tag was added to gene: SLC1A3.
Skeletal muscle channelopathy v1.26 SLC1A3 Eleanor Williams Tag Q2_21_rating tag was added to gene: SLC1A3.
Skeletal muscle channelopathy v1.26 SLC1A3 Eleanor Williams reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: None; Publications: 16116111, 19139306, 25497598; Phenotypes: Episodic ataxia, type 6, OMIM:612656, episodic ataxia type 6, MONDO:0012982; Mode of inheritance: None
Skeletal muscle channelopathy v1.26 PYGM Eleanor Williams changed review comment from: Comment on list classification: Leaving the rating as green, but with a recommendation for a red rating following GMS review because this gene encodes an enzyme not a channel.; to: Comment on list classification: Leaving the rating as green, but with a recommendation for a red rating following GMS review because this gene encodes an enzyme not a channel. However, the phenotype may overlap with channelopathies.
Skeletal muscle channelopathy v1.26 PYGM Eleanor Williams Classified gene: PYGM as Green List (high evidence)
Skeletal muscle channelopathy v1.26 PYGM Eleanor Williams Added comment: Comment on list classification: Leaving the rating as green, but with a recommendation for a red rating following GMS review because this gene encodes an enzyme not a channel.
Skeletal muscle channelopathy v1.26 PYGM Eleanor Williams Gene: pygm has been classified as Green List (High Evidence).
Skeletal muscle channelopathy v1.25 PYGM Eleanor Williams Tag Q2_21_rating tag was added to gene: PYGM.
Skeletal muscle channelopathy v1.25 ATP1A2 Eleanor Williams Tag Q2_21_phenotype tag was added to gene: ATP1A2.
Skeletal muscle channelopathy v1.25 CACNA1A Eleanor Williams Classified gene: CACNA1A as Green List (high evidence)
Skeletal muscle channelopathy v1.25 CACNA1A Eleanor Williams Added comment: Comment on list classification: Leaving rating as green but with a recommendation for red rating following GMS review. As reported by Zornitza Stark variants in this gene appear to be associated with brain channelopathies rather than skeletal muscle.
Skeletal muscle channelopathy v1.25 CACNA1A Eleanor Williams Gene: cacna1a has been classified as Green List (High Evidence).
Skeletal muscle channelopathy v1.24 CACNA1A Eleanor Williams Tag Q2_21_rating tag was added to gene: CACNA1A.
Tag Q2_21_phenotype tag was added to gene: CACNA1A.
Skeletal muscle channelopathy v1.24 CACNA1A Eleanor Williams reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal muscle channelopathy v1.24 ATP1A2 Eleanor Williams Classified gene: ATP1A2 as Green List (high evidence)
Skeletal muscle channelopathy v1.24 ATP1A2 Eleanor Williams Added comment: Comment on list classification: Leaving rating as Green but with a recommendation of a red rating following GMS review, as there is only one case reported associated with a skeletal muscle phenotype.
Skeletal muscle channelopathy v1.24 ATP1A2 Eleanor Williams Gene: atp1a2 has been classified as Green List (High Evidence).
Skeletal muscle channelopathy v1.23 ATP1A2 Eleanor Williams Tag Q2_21_rating tag was added to gene: ATP1A2.
Skeletal muscle channelopathy v1.23 ATP1A2 Eleanor Williams Phenotypes for gene: ATP1A2 were changed from Migraine, familial hemiplegic, 2, 602481; Alternating hemiplegia of childhood 1, 104290; Hypokalaemic periodic paralysis to hypokalaemic periodic paralysis MONDO:0008223
Skeletal muscle channelopathy v1.22 ATP1A2 Eleanor Williams Publications for gene: ATP1A2 were set to 30423015; 15286158; 18056581
Skeletal muscle channelopathy v1.21 ATP1A2 Eleanor Williams reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: None; Publications: 30423015; Phenotypes: hypokalaemic periodic paralysis MONDO:0008223; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal muscle channelopathy v1.21 SCN4A Eleanor Williams commented on gene: SCN4A
Skeletal muscle channelopathy v1.21 CACNA1S Eleanor Williams Phenotypes for gene: CACNA1S were changed from Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I OMIM:170400 (Dominant) to Congenital myopathy, MONDO:0019952; Hypokalaemic periodic paralysis, type I, OMIM:170400
Skeletal muscle channelopathy v1.20 CACNA1S Eleanor Williams commented on gene: CACNA1S
Skeletal muscle channelopathy v1.20 SLC2A1 Eleanor Williams Phenotypes for gene: SLC2A1 were changed from Epilepsy, idiopathic generalized, susceptibility to, 12, 614847; Can resemble skeletal muscle channelopathy; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant).; GLUT1 deficiency syndrome 2, childhood onset, 612126 to Epilepsy, idiopathic generalized, susceptibility to, 12, OMIM:614847; GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777; GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
Skeletal muscle channelopathy v1.19 SCN4A Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy MONDO:0019952. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300; Congenital myopathy MONDO:0019952.
Skeletal muscle channelopathy v1.18 SCN4A Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy MONDO:0019952.
Skeletal muscle channelopathy v1.17 SCN4A Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy.
Skeletal muscle channelopathy v1.16 SCN4A Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 (613345); Dominant: Hyperkalemic periodic paralysis (170500); Paramyotonia congenita (168300). Recessive: Congenital myopathy. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy.
Skeletal muscle channelopathy v1.15 RYR1 Eleanor Williams Phenotypes for gene: RYR1 were changed from Central core disease, OMIM:11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant) to Central core disease, OMIM:117000 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)
Skeletal muscle channelopathy v1.14 RYR1 Eleanor Williams Phenotypes for gene: RYR1 were changed from Central core disease , 11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, 255320 (recessive); Malignant hyperthermia susceptibility 1, 145600 (Dominant) to Central core disease, OMIM:11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)
Skeletal muscle channelopathy v1.13 PYGM Eleanor Williams Phenotypes for gene: PYGM were changed from McArdle disease, 232600 to McArdle disease OMIM:232600
Skeletal muscle channelopathy v1.12 KCNA1 Eleanor Williams Phenotypes for gene: KCNA1 were changed from Episodic ataxia type 1/myokymia syndrome, 160120 to Episodic ataxia type 1/myokymia syndrome OMIM:160120
Skeletal muscle channelopathy v1.11 CLCN1 Eleanor Williams Phenotypes for gene: CLCN1 were changed from Myotonia congenita, dominant, 160800; Myotonia congenita, recessive, 255700 to Myotonia congenita, dominant OMIM:160800; Myotonia congenita, recessive OMIM:255700
Skeletal muscle channelopathy v1.10 CACNA1S Eleanor Williams Phenotypes for gene: CACNA1S were changed from Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I, 170400 (Dominant) to Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I OMIM:170400 (Dominant)
Skeletal muscle channelopathy v1.9 CACNA1A Eleanor Williams Phenotypes for gene: CACNA1A were changed from Episodic ataxia 2 with periodic paralysis; Epileptic encephalopathy, early infantile, 42, 617106; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500 to Episodic ataxia 2 with periodic paralysis; Epileptic encephalopathy, early infantile, 42 OMIM:617106; Migraine, familial hemiplegic, 1 OMIM:141500; Episodic ataxia, type 2 OMIM:108500
Skeletal muscle channelopathy v1.8 ATP2A1 Eleanor Williams Phenotypes for gene: ATP2A1 were changed from Brody myopathy, 601003 to Brody myopathy OMIM:601003
Skeletal muscle channelopathy v1.7 KCNJ2 Arina Puzriakova Phenotypes for gene: KCNJ2 were changed from Andersen syndrome, 170390 to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222; Episodic weakness; Periodic paralysis
Skeletal muscle channelopathy v1.6 CNBP Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CNBP.
Tag currently-ngs-unreportable tag was added to gene: CNBP.
Skeletal muscle channelopathy v1.6 CNBP_CCTG Arina Puzriakova Tag STR tag was added to STR: CNBP_CCTG.
Skeletal muscle channelopathy v1.6 CNBP_CCTG Arina Puzriakova Phenotypes for STR: CNBP_CCTG were changed from Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Skeletal muscle channelopathy v1.6 CNBP_CCTG Arina Puzriakova Phenotypes for STR: CNBP_CCTG were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Skeletal muscle channelopathy v1.5 CNBP Arina Puzriakova Phenotypes for gene: CNBP were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Skeletal muscle channelopathy v1.4 SLC2A1 Zornitza Stark reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 9, MIM# 601042; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal muscle channelopathy v1.4 SLC1A3 Zornitza Stark reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic ataxia, type 6, MIM# 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal muscle channelopathy v1.4 PYGM Zornitza Stark reviewed gene: PYGM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: McArdle disease, 232600; Mode of inheritance: None
Skeletal muscle channelopathy v1.4 CACNA1A Zornitza Stark reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic ataxia, type 2, MIM# 108500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal muscle channelopathy v1.4 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: None; Publications: 30423015; Phenotypes: Hypokalaemic periodic paralysis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal muscle channelopathy v1.3 Catherine Snow Panel version has been signed off
Skeletal muscle channelopathy v1.2 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Skeletal muscle channelopathy v1.0 Louise Daugherty promoted panel to version 1.0
Skeletal muscle channelopathy v0.30 Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
Skeletal muscle channelopathy v0.28 Louise Daugherty Panel name changed from Myotonia congenita to Skeletal muscle channelopathy
List of related panels changed from R76 to R76; Myotonia congenita
Skeletal muscle channelopathy v0.26 CNBP_CCTG Louise Daugherty commented on STR: CNBP_CCTG: As discussed in PanelApp team meeting a new tag "NGS Not Validated". This STR currently has not be validated within the Genomics England pipeline.
Skeletal muscle channelopathy v0.26 CNBP_CCTG Louise Daugherty Tag NGS Not Validated tag was added to STR: CNBP_CCTG.
Skeletal muscle channelopathy v0.26 CNBP_CCTG Louise Daugherty changed review comment from: STR added as part of the GMS. This STR is tested routinely using PCR-based methods in the NHS. It should be noted that this STR is currently not offered as part of the 100K RD Skeletal muscle channelopathy panel as is currently difficult to report this STR using the WGS EH pipeline because of the complex locus (
Sources: Expert list; to: STR added as part of the GMS. This STR is tested routinely using PCR-based methods in the NHS. It should be noted that this STR is currently not offered as part of the 100K RD Skeletal muscle channelopathy panel as is currently difficult to report this STR using the WGS EH pipeline because of the complex locus
Sources: Expert list
Skeletal muscle channelopathy v0.26 CNBP_CCTG Louise Daugherty changed review comment from: STR added as part of the GMS. This STR is tested routinely using PCR-based methods in the NHS.
Sources: Expert list; to: STR added as part of the GMS. This STR is tested routinely using PCR-based methods in the NHS. It should be noted that this STR is currently not offered as part of the 100K RD Skeletal muscle channelopathy panel as is currently difficult to report this STR using the WGS EH pipeline because of the complex locus (
Sources: Expert list
Skeletal muscle channelopathy v0.26 DMPK_CTG Louise Daugherty Classified STR: DMPK_CTG as Green List (high evidence)
Skeletal muscle channelopathy v0.26 DMPK_CTG Louise Daugherty Str: dmpk_ctg has been classified as Green List (High Evidence).
Skeletal muscle channelopathy v0.25 DMPK Louise Daugherty Classified gene: DMPK as Red List (low evidence)
Skeletal muscle channelopathy v0.25 DMPK Louise Daugherty Added comment: Comment on list classification: demoted to Red, this review is for the STR entity and not the gene entity.
Skeletal muscle channelopathy v0.25 DMPK Louise Daugherty Gene: dmpk has been classified as Red List (Low Evidence).
Skeletal muscle channelopathy v0.24 DMPK_CTG Louise Daugherty STR: DMPK_CTG was added
STR: DMPK_CTG was added to Myotonia congenita. Sources: Expert list
Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DMPK_CTG were set to 7825566
Phenotypes for STR: DMPK_CTG were set to Myotonic dystrophy 1, 16090
Review for STR: DMPK_CTG was set to GREEN
Added comment: STR added as part of the GMS. This STR is tested routinely using PCR-based methods in the NHS.
Sources: Expert list
Skeletal muscle channelopathy v0.23 CNBP_CCTG Louise Daugherty Classified STR: CNBP_CCTG as Green List (high evidence)
Skeletal muscle channelopathy v0.23 CNBP_CCTG Louise Daugherty Str: cnbp_cctg has been classified as Green List (High Evidence).
Skeletal muscle channelopathy v0.22 CNBP_CCTG Louise Daugherty STR: CNBP_CCTG was added
STR: CNBP_CCTG was added to Myotonia congenita. Sources: Expert list
Mode of inheritance for STR: CNBP_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: CNBP_CCTG were set to 18807109
Phenotypes for STR: CNBP_CCTG were set to Myotonic dystrophy 2, 602668
Review for STR: CNBP_CCTG was set to GREEN
Added comment: STR added as part of the GMS. This STR is tested routinely using PCR-based methods in the NHS.
Sources: Expert list
Skeletal muscle channelopathy v0.21 CNBP Louise Daugherty Classified gene: CNBP as Red List (low evidence)
Skeletal muscle channelopathy v0.21 CNBP Louise Daugherty Added comment: Comment on list classification: demoted to Red, this review is for the STR entity and not the gene entity.
Skeletal muscle channelopathy v0.21 CNBP Louise Daugherty Gene: cnbp has been classified as Red List (Low Evidence).
Skeletal muscle channelopathy v0.20 ATP2A1 Louise Daugherty Publications for gene: ATP2A1 were set to 8841193; 30423015; 15286158; 18056581
Skeletal muscle channelopathy v0.19 ATP2A1 Louise Daugherty Publications for gene: ATP2A1 were set to 8841193; 30423015; 15286158,18056581
Skeletal muscle channelopathy v0.18 ATP2A1 Louise Daugherty Added comment: Comment on publications: added additional publications to support Green rating. NB: SERCA1 is the previous gene symbol for ATP1A2
Skeletal muscle channelopathy v0.18 ATP2A1 Louise Daugherty Publications for gene: ATP2A1 were set to 8841193
Skeletal muscle channelopathy v0.17 SLC2A1 Louise Daugherty Publications for gene SLC2A1 were changed from to 19630075; 26598494; 10980529
Skeletal muscle channelopathy v0.17 SLC1A3 Louise Daugherty Publications for gene SLC1A3 were changed from to 19139306
Skeletal muscle channelopathy v0.17 SCN4A Louise Daugherty Publications for gene SCN4A were changed from to 18166706; 15534250; 19118277; 26700687
Skeletal muscle channelopathy v0.17 RYR1 Louise Daugherty Publications for gene RYR1 were changed from to 12136074; 16163667; 20839240
Skeletal muscle channelopathy v0.17 PYGM Louise Daugherty Publications for gene PYGM were changed from to 21880526
Skeletal muscle channelopathy v0.17 MT-ATP8 Louise Daugherty Publications for gene MT-ATP8 were changed from to 24153443
Skeletal muscle channelopathy v0.17 MT-ATP6 Louise Daugherty Publications for gene MT-ATP6 were changed from to 24153443
Skeletal muscle channelopathy v0.17 KCNJ2 Louise Daugherty Publications for gene KCNJ2 were changed from to 16217063; 12796536
Skeletal muscle channelopathy v0.17 KCNA1 Louise Daugherty Publications for gene KCNA1 were changed from to 19770477; 17575281
Skeletal muscle channelopathy v0.17 DMPK Louise Daugherty Publications for gene DMPK were changed from to 7825566
Skeletal muscle channelopathy v0.17 CNBP Louise Daugherty Publications for gene CNBP were changed from to 18807109
Skeletal muscle channelopathy v0.17 CLCN1 Louise Daugherty Publications for gene CLCN1 were changed from to 17932099
Skeletal muscle channelopathy v0.17 CACNA1S Louise Daugherty Publications for gene CACNA1S were changed from to 28012042; 19118277
Skeletal muscle channelopathy v0.17 CACNA1A Louise Daugherty Publications for gene CACNA1A were changed from to 29442233; 8734765; 17575281
Skeletal muscle channelopathy v0.17 ATP2A1 Louise Daugherty Publications for gene ATP2A1 were changed from to 8841193
Skeletal muscle channelopathy v0.17 ATP1A2 Louise Daugherty Publications for gene ATP1A2 were changed from to 30423015; 15286158; 18056581
Skeletal muscle channelopathy v0.17 ADCY5 Louise Daugherty Publications for gene ADCY5 were changed from to 24700542
Skeletal muscle channelopathy v0.16 SLC1A3 Louise Daugherty Source NHS GMS was added to SLC1A3.
Skeletal muscle channelopathy v0.16 RYR1 Louise Daugherty Source NHS GMS was added to RYR1.
Skeletal muscle channelopathy v0.16 PYGM Louise Daugherty Source NHS GMS was added to PYGM.
Skeletal muscle channelopathy v0.16 MT-ATP8 Louise Daugherty Source NHS GMS was added to MT-ATP8.
Skeletal muscle channelopathy v0.16 MT-ATP6 Louise Daugherty Source NHS GMS was added to MT-ATP6.
Skeletal muscle channelopathy v0.16 KCNA1 Louise Daugherty Source NHS GMS was added to KCNA1.
Skeletal muscle channelopathy v0.16 DMPK Louise Daugherty Source NHS GMS was added to DMPK.
Skeletal muscle channelopathy v0.16 CNBP Louise Daugherty Source NHS GMS was added to CNBP.
Skeletal muscle channelopathy v0.16 ATP2A1 Louise Daugherty Source NHS GMS was added to ATP2A1.
Skeletal muscle channelopathy v0.16 ADCY5 Louise Daugherty Source NHS GMS was added to ADCY5.
Skeletal muscle channelopathy v0.15 SLC2A1 James Polke edited their review of gene: SLC2A1: Changed publications: Gardiner et al 2015 Brain 138, 3567-3580 PMID: 26598494. Wang et al 2000 Hum Mut 16, 224-31 PMID: 10980529. Schneider et al 2009 Mov Disord 24, 1684-8 PMID: 19630075. Suls et al 2009 Ann Neurol 66, 415-9; Changed phenotypes: Can resemble skeletal muscle channelopathy, GLUT1 deficiency syndrome 2, childhood onset, 612126, Epilepsy, idiopathic generalized, susceptibility to, 12, 614847, GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant). ; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal muscle channelopathy v0.15 SLC1A3 James Polke reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: de Vries et al 2009 Arch Neurol 66. 97-101 PMID: 19139306; Phenotypes: Episodic ataxia, type 6, 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Skeletal muscle channelopathy v0.15 SCN4A James Polke edited their review of gene: SCN4A: Changed publications: Miller et al 2004 Neurology 9, 1647-55 PMID: 15534250. Matthews et al 2009 Neurology 72, 1544-7 PMID:19118277. Matthews et al 2008 Neurology 70, 50-3 PMID: 18166706. Zaharieva et al 2016 Brain 139, 674-91 PMID: 26700687; Changed phenotypes: Dominant: Hyperkalemic periodic paralysis (170500), Hypokalemic periodic paralysis, type 2 (613345), Paramyotonia congenita (168300). Recessive: Congenital myopathy. ; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal muscle channelopathy v0.15 RYR1 James Polke reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: ; Publications: Jungbluth et al 2002 Neurology 59, 284-7 PMID: 12136074, Wilmhurst et al 2010 Ann Neurol 68, 717-26 PMID: 20839240, Monnier et al 2005 Hum Mutat 26, 413-25 PMID: 16163667; Phenotypes: Central core disease , 11700 (Dominant & recessive), Minicore myopathy with external ophthalmoplegia, 255320 (recessive), Malignant hyperthermia susceptibility 1, 145600 (Dominant); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal muscle channelopathy v0.15 PYGM James Polke reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: ; Publications: Wu et al 2011 Mol Genet Metab 104, 587-91 PMID: 21880526; Phenotypes: McArdle disease, 232600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal muscle channelopathy v0.15 MT-ATP8 James Polke reviewed gene: MT-ATP8: Rating: GREEN; Mode of pathogenicity: ; Publications: Aure et al 2013 Neurology 81, 1810-8 PMID:24153443; Phenotypes: Can resemble skeletal muscle channelopathy; Mode of inheritance: MITOCHONDRIAL; Current diagnostic: yes
Skeletal muscle channelopathy v0.15 MT-ATP6 James Polke reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: ; Publications: Aure et al 2013 Neurology 81, 1810-8 PMID:24153443; Phenotypes: Can resemble skeletal muscle channelopathy; Mode of inheritance: MITOCHONDRIAL; Current diagnostic: yes
Skeletal muscle channelopathy v0.15 KCNJ2 James Polke edited their review of gene: KCNJ2: Changed publications: Davies et al 2005 Neurology 11, 1083-9 PMID: 16217063. Donaldson et al 2003 Neurology 10, 1811-6 PMID: 12796536; Changed phenotypes: Andersen syndrome, 170390; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal muscle channelopathy v0.15 KCNA1 James Polke reviewed gene: KCNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: Rajakulendran et al 2009 Neurology 73, 993-5 PMID: 19770477. Jen et al 2007 Brain 130, 2484-93 PMID: 17575281; Phenotypes: Episodic ataxia type 1/myokymia syndrome, 160120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Skeletal muscle channelopathy v0.15 DMPK James Polke reviewed gene: DMPK: Rating: GREEN; Mode of pathogenicity: ; Publications: Wong et al 1995 Am J Hum Genet 56, 114-122 PMID: 7825566; Phenotypes: Myotonic dystrophy 1, 160900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal muscle channelopathy v0.15 CNBP James Polke reviewed gene: CNBP: Rating: GREEN; Mode of pathogenicity: ; Publications: Suominen et al 2008 J Neurol 255, 1731-6 PMID: 18807109; Phenotypes: Myotonic dystrophy 2, 602668; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal muscle channelopathy v0.15 CLCN1 James Polke edited their review of gene: CLCN1: Changed publications: Fialho et al 2007 Brain 130, 3265-74 PMID: 17932099; Changed phenotypes: Myotonia congenita, dominant, 160800, Myotonia congenita, recessive, 255700; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal muscle channelopathy v0.15 CACNA1S James Polke edited their review of gene: CACNA1S: Changed publications: Matthews et al 2009 Neurology 72, 1544-7 PMID:19118277. Schartner et al 2017 Acta Neuropathol 133, 517-533 PMID: 28012042; Changed phenotypes: Hypokalaemic periodic paralysis, type I, 170400 (Dominant), Congenital myopathy (Dominant & recessive); Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal muscle channelopathy v0.15 CACNA1A James Polke edited their review of gene: CACNA1A: Changed publications: Park et al 2018 Acta Neurologica Belgica 118, 137-139 PMID: 29442233. Jen et al 2007 Brain 130, 2484-93 PMID: 17575281. Terwindt et al 1996 Cephalalgia 16, 153-5 PMID: 8734765; Changed phenotypes: Episodic ataxia 2 with periodic paralysis, Episodic ataxia, type 2, 108500, Migraine, familial hemiplegic, 1, 141500, Epileptic encephalopathy, early infantile, 42, 617106; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal muscle channelopathy v0.15 ATP2A1 James Polke reviewed gene: ATP2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: Odermatt et al 1996 Nat Genet 14, 191-4 PMID: 8841193; Phenotypes: Brody myopathy, 601003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal muscle channelopathy v0.15 ATP1A2 James Polke edited their review of gene: ATP1A2: Changed publications: Castaneda et al 2018 Brain 141, 3308-3318 PMID: 30423015. Bassi et al 2004 J Med Genet 41, 621-8 PMID: 15286158. de Vries et al 2007 Neurology 69, 2170-6 PMID: 18056581; Changed phenotypes: Hypokalaemic periodic paralysis, Alternating hemiplegia of childhood 1, 104290, Migraine, familial hemiplegic, 2, 602481 ; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal muscle channelopathy v0.15 ADCY5 James Polke reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: ; Publications: Chen et al 2014 Ann Neurol 75, 542-9 PMID: 24700542; Phenotypes: Dyskinesia, familial, with facial myokymia, 606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal muscle channelopathy v0.14 SLC2A1 Louise Daugherty Mode of inheritance for gene SLC2A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Epilepsy, idiopathic generalized, susceptibility to, 12, 614847; Can resemble skeletal muscle channelopathy; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant).; GLUT1 deficiency syndrome 2, childhood onset, 612126 for gene: SLC2A1
Skeletal muscle channelopathy v0.14 SLC1A3 Louise Daugherty Mode of inheritance for gene SLC1A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Episodic ataxia, type 6, 612656 for gene: SLC1A3
Skeletal muscle channelopathy v0.14 SCN4A Louise Daugherty Mode of inheritance for gene SCN4A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hypokalemic periodic paralysis, type 2 (613345); Dominant: Hyperkalemic periodic paralysis (170500); Paramyotonia congenita (168300). Recessive: Congenital myopathy. for gene: SCN4A
Skeletal muscle channelopathy v0.14 RYR1 Louise Daugherty Mode of inheritance for gene RYR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Central core disease , 11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, 255320 (recessive); Malignant hyperthermia susceptibility 1, 145600 (Dominant) for gene: RYR1
Skeletal muscle channelopathy v0.14 PYGM Louise Daugherty Mode of inheritance for gene PYGM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes McArdle disease, 232600 for gene: PYGM
Skeletal muscle channelopathy v0.14 MT-ATP8 Louise Daugherty Added phenotypes Can resemble skeletal muscle channelopathy for gene: MT-ATP8
Skeletal muscle channelopathy v0.14 MT-ATP6 Louise Daugherty Added phenotypes Can resemble skeletal muscle channelopathy for gene: MT-ATP6
Skeletal muscle channelopathy v0.14 KCNJ2 Louise Daugherty Mode of inheritance for gene KCNJ2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Andersen syndrome, 170390 for gene: KCNJ2
Skeletal muscle channelopathy v0.14 KCNA1 Louise Daugherty Mode of inheritance for gene KCNA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Episodic ataxia type 1/myokymia syndrome, 160120 for gene: KCNA1
Skeletal muscle channelopathy v0.14 DMPK Louise Daugherty Mode of inheritance for gene DMPK was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Myotonic dystrophy 1, 160900 for gene: DMPK
Skeletal muscle channelopathy v0.14 CNBP Louise Daugherty Mode of inheritance for gene CNBP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Myotonic dystrophy 2, 602668 for gene: CNBP
Skeletal muscle channelopathy v0.14 CLCN1 Louise Daugherty Mode of inheritance for gene CLCN1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Myotonia congenita, dominant, 160800; Myotonia congenita, recessive, 255700 for gene: CLCN1
Skeletal muscle channelopathy v0.14 CACNA1S Louise Daugherty Mode of inheritance for gene CACNA1S was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I, 170400 (Dominant) for gene: CACNA1S
Skeletal muscle channelopathy v0.14 CACNA1A Louise Daugherty Mode of inheritance for gene CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Episodic ataxia 2 with periodic paralysis; Epileptic encephalopathy, early infantile, 42, 617106; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500 for gene: CACNA1A
Skeletal muscle channelopathy v0.14 ATP2A1 Louise Daugherty Mode of inheritance for gene ATP2A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Brody myopathy, 601003 for gene: ATP2A1
Skeletal muscle channelopathy v0.14 ATP1A2 Louise Daugherty Mode of inheritance for gene ATP1A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Migraine, familial hemiplegic, 2, 602481; Alternating hemiplegia of childhood 1, 104290; Hypokalaemic periodic paralysis for gene: ATP1A2
Skeletal muscle channelopathy v0.14 ADCY5 Louise Daugherty Mode of inheritance for gene ADCY5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5
Skeletal muscle channelopathy v0.13 SLC1A3 Louise Daugherty Source Expert Review Green was added to SLC1A3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.13 RYR1 Louise Daugherty Source Expert Review Green was added to RYR1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.13 PYGM Louise Daugherty Source Expert Review Green was added to PYGM.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.13 MT-ATP8 Louise Daugherty Source Expert Review Green was added to MT-ATP8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.13 MT-ATP6 Louise Daugherty Source Expert Review Green was added to MT-ATP6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.13 KCNA1 Louise Daugherty Source Expert Review Green was added to KCNA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.13 DMPK Louise Daugherty Source Expert Review Green was added to DMPK.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.13 CNBP Louise Daugherty Source Expert Review Green was added to CNBP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.13 ATP2A1 Louise Daugherty Source Expert Review Green was added to ATP2A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.13 ADCY5 Louise Daugherty Source Expert Review Red was added to ADCY5.
Skeletal muscle channelopathy v0.12 SLC1A3 Louise Daugherty gene: SLC1A3 was added
gene: SLC1A3 was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: SLC1A3 was set to
Skeletal muscle channelopathy v0.12 RYR1 Louise Daugherty gene: RYR1 was added
gene: RYR1 was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: RYR1 was set to
Skeletal muscle channelopathy v0.12 PYGM Louise Daugherty gene: PYGM was added
gene: PYGM was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: PYGM was set to
Skeletal muscle channelopathy v0.12 MT-ATP8 Louise Daugherty gene: MT-ATP8 was added
gene: MT-ATP8 was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL
Skeletal muscle channelopathy v0.12 MT-ATP6 Louise Daugherty gene: MT-ATP6 was added
gene: MT-ATP6 was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Skeletal muscle channelopathy v0.12 KCNA1 Louise Daugherty gene: KCNA1 was added
gene: KCNA1 was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: KCNA1 was set to
Skeletal muscle channelopathy v0.12 DMPK Louise Daugherty gene: DMPK was added
gene: DMPK was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: DMPK was set to
Skeletal muscle channelopathy v0.12 CNBP Louise Daugherty gene: CNBP was added
gene: CNBP was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: CNBP was set to
Skeletal muscle channelopathy v0.12 ATP2A1 Louise Daugherty gene: ATP2A1 was added
gene: ATP2A1 was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: ATP2A1 was set to
Skeletal muscle channelopathy v0.12 ADCY5 Louise Daugherty gene: ADCY5 was added
gene: ADCY5 was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: ADCY5 was set to
Skeletal muscle channelopathy v0.11 Louise Daugherty List of related panels changed from to R76
Skeletal muscle channelopathy v0.7 ATP1A2 Louise Daugherty Deleted their comment
Skeletal muscle channelopathy v0.7 CACNA1A Louise Daugherty Deleted their comment
Skeletal muscle channelopathy v0.7 CACNA1S Louise Daugherty Deleted their comment
Skeletal muscle channelopathy v0.7 CLCN1 Louise Daugherty Deleted their comment
Skeletal muscle channelopathy v0.7 KCNJ2 Louise Daugherty Deleted their comment
Skeletal muscle channelopathy v0.7 SCN4A Louise Daugherty Deleted their comment
Skeletal muscle channelopathy v0.7 SLC2A1 Louise Daugherty Deleted their comment
Skeletal muscle channelopathy v0.7 SLC2A1 Louise Daugherty commented on gene: SLC2A1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Skeletal muscle channelopathy v0.7 SCN4A Louise Daugherty commented on gene: SCN4A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Skeletal muscle channelopathy v0.7 KCNJ2 Louise Daugherty commented on gene: KCNJ2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Skeletal muscle channelopathy v0.7 CLCN1 Louise Daugherty commented on gene: CLCN1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Skeletal muscle channelopathy v0.7 CACNA1S Louise Daugherty commented on gene: CACNA1S: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Skeletal muscle channelopathy v0.7 CACNA1A Louise Daugherty commented on gene: CACNA1A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Skeletal muscle channelopathy v0.7 ATP1A2 Louise Daugherty commented on gene: ATP1A2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Skeletal muscle channelopathy v0.6 SLC2A1 Louise Daugherty reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v0.6 SCN4A Louise Daugherty reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v0.6 KCNJ2 Louise Daugherty reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v0.6 CLCN1 Louise Daugherty reviewed gene: CLCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v0.6 CACNA1S Louise Daugherty reviewed gene: CACNA1S: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v0.6 CACNA1A Louise Daugherty reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v0.6 ATP1A2 Louise Daugherty reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v0.5 SLC2A1 James Polke reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Skeletal muscle channelopathy v0.5 SCN4A James Polke reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Skeletal muscle channelopathy v0.5 KCNJ2 James Polke reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Skeletal muscle channelopathy v0.5 CLCN1 James Polke reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Skeletal muscle channelopathy v0.5 CACNA1S James Polke reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Skeletal muscle channelopathy v0.5 CACNA1A James Polke reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Skeletal muscle channelopathy v0.5 ATP1A2 James Polke reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Skeletal muscle channelopathy v0.4 SLC2A1 Louise Daugherty Source Expert Review Green was added to SLC2A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.4 SCN4A Louise Daugherty Source Expert Review Green was added to SCN4A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.4 KCNJ2 Louise Daugherty Source Expert Review Green was added to KCNJ2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.4 CLCN1 Louise Daugherty Source Expert Review Green was added to CLCN1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.4 CACNA1S Louise Daugherty Source Expert Review Green was added to CACNA1S.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.4 CACNA1A Louise Daugherty Source Expert Review Green was added to CACNA1A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.4 ATP1A2 Louise Daugherty Source Expert Review Green was added to ATP1A2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.3 SLC2A1 Louise Daugherty Source NHS GMS was added to SLC2A1.
Skeletal muscle channelopathy v0.3 SCN4A Louise Daugherty Source NHS GMS was added to SCN4A.
Skeletal muscle channelopathy v0.3 KCNJ2 Louise Daugherty Source NHS GMS was added to KCNJ2.
Skeletal muscle channelopathy v0.3 CLCN1 Louise Daugherty Source NHS GMS was added to CLCN1.
Skeletal muscle channelopathy v0.3 CACNA1S Louise Daugherty Source NHS GMS was added to CACNA1S.
Skeletal muscle channelopathy v0.3 CACNA1A Louise Daugherty Source NHS GMS was added to CACNA1A.
Skeletal muscle channelopathy v0.3 ATP1A2 Louise Daugherty Source NHS GMS was added to ATP1A2.
Skeletal muscle channelopathy v0.2 SLC2A1 Louise Daugherty gene: SLC2A1 was added
gene: SLC2A1 was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: SLC2A1 was set to
Skeletal muscle channelopathy v0.2 SCN4A Louise Daugherty gene: SCN4A was added
gene: SCN4A was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: SCN4A was set to
Skeletal muscle channelopathy v0.2 KCNJ2 Louise Daugherty gene: KCNJ2 was added
gene: KCNJ2 was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: KCNJ2 was set to
Skeletal muscle channelopathy v0.2 CLCN1 Louise Daugherty gene: CLCN1 was added
gene: CLCN1 was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: CLCN1 was set to
Skeletal muscle channelopathy v0.2 CACNA1S Louise Daugherty gene: CACNA1S was added
gene: CACNA1S was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: CACNA1S was set to
Skeletal muscle channelopathy v0.2 CACNA1A Louise Daugherty gene: CACNA1A was added
gene: CACNA1A was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: CACNA1A was set to
Skeletal muscle channelopathy v0.2 ATP1A2 Louise Daugherty gene: ATP1A2 was added
gene: ATP1A2 was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: ATP1A2 was set to
Skeletal muscle channelopathy v0.0 Ellen McDonagh Added Panel Myotonia congenita
Set panel types to: GMS Rare Disease