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Brain channelopathy v1.60 SCN8A Arina Puzriakova Phenotypes for gene: SCN8A were changed from epilepsy; paroxysmal kinesigenic dyskinesias to Seizures, benign familial infantile, 5, OMIM:617080; Paroxysmal kinesigenic dyskinesias
Brain channelopathy v1.59 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Brain channelopathy v1.59 KCNJ2 Arina Puzriakova Phenotypes for gene: KCNJ2 were changed from Andersen syndrome, MIM# 170390 to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222; Episodic weakness; Periodic paralysis
Brain channelopathy v1.58 KCNJ2 Arina Puzriakova Classified gene: KCNJ2 as Green List (high evidence)
Brain channelopathy v1.58 KCNJ2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Rating Green as there are sufficient unrelated cases (>3) with monoallelic variants in this potassium channel gene. KCNJ2 is also Green on the 'Skeletal muscle channelopathy v1.6' GMS panel.
Brain channelopathy v1.58 KCNJ2 Arina Puzriakova Gene: kcnj2 has been classified as Green List (High Evidence).
Brain channelopathy v1.57 KCNMA1 Arina Puzriakova Phenotypes for gene: KCNMA1 were changed from Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446 to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446; Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276
Brain channelopathy v1.56 KCNMA1 Arina Puzriakova Classified gene: KCNMA1 as Green List (high evidence)
Brain channelopathy v1.56 KCNMA1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Rating Green as there are sufficient unrelated cases (3) with early-onset paroxysmal nonkinesigenic dyskinesia associated with monoallelic variants in this potassium channel gene. KCNMA1 is also Green on the 'Paroxysmal central nervous system disorders v1.7' GMS panel.
Brain channelopathy v1.56 KCNMA1 Arina Puzriakova Gene: kcnma1 has been classified as Green List (High Evidence).
Brain channelopathy v1.55 KCNMA1 Zornitza Stark gene: KCNMA1 was added
gene: KCNMA1 was added to Brain channelopathy. Sources: Expert list
Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNMA1 were set to 15937479; 26195193
Phenotypes for gene: KCNMA1 were set to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446
Review for gene: KCNMA1 was set to GREEN
gene: KCNMA1 was marked as current diagnostic
Added comment: Potassium channel gene which is associated with several phenotypes, including paroxysmal dyskinesia in at least three unrelated families.
Sources: Expert list
Brain channelopathy v1.55 KCNJ2 Zornitza Stark gene: KCNJ2 was added
gene: KCNJ2 was added to Brain channelopathy. Sources: Expert list
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ2 were set to 16217063; 16571646; 16419128; 17324964
Phenotypes for gene: KCNJ2 were set to Andersen syndrome, MIM# 170390
Review for gene: KCNJ2 was set to GREEN
Added comment: Multisystem channelopathy characterised by periodic paralysis as well as ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. > 10 families reported, well established gene-disease association.
Sources: Expert list
Brain channelopathy v1.55 ISCA-37468-Loss Louise Daugherty Triplosensitivity Score for ISCA-37468-Loss was changed from to None.
Model of inheritance for Region: ISCA-37468-Loss was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Brain channelopathy v1.52 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
Brain channelopathy v1.51 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619
Brain channelopathy v1.50 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
Brain channelopathy v1.49 SLC6A5 Louise Daugherty Publications for gene: SLC6A5 were set to 16751771;
Brain channelopathy v1.48 CSTB_CCCCGCCCCGCG Louise Daugherty GRCh38 position for CSTB_CCCCGCCCCGCG was changed from 43776447-43776470 to 43776429-43776470.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brain channelopathy v1.47 ATN1_CAG Louise Daugherty GRCh38 position for ATN1_CAG was changed from 6936717-6936773 to 6936717-6936772.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brain channelopathy v1.46 CACNA1A_CAG Louise Daugherty Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6 183086
Brain channelopathy v1.45 TBP_CAG Arianna Tucci Phenotypes for STR: TBP_CAG were changed from to Spinocerebellar ataxia 17 607136
Brain channelopathy v1.44 CSTB_CCCCGCCCCGCG Arianna Tucci Phenotypes for STR: CSTB_CCCCGCCCCGCG were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Brain channelopathy v1.43 CACNA1A_CAG Arianna Tucci Phenotypes for STR: CACNA1A_CAG were changed from to Spinocerebellar ataxia 6 183086
Brain channelopathy v1.42 TBP_CAG Louise Daugherty Tag STR tag was added to STR: TBP_CAG.
Brain channelopathy v1.42 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as No list
Brain channelopathy v1.42 HTT_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Brain channelopathy v1.42 HTT_CAG Louise Daugherty Str: htt_cag has been removed from the panel.
Brain channelopathy v1.41 HTT_CAG Louise Daugherty Normal Number of Repeats for HTT_CAG was changed from 36 to 40.
Pathogenic Number of Repeats for HTT_CAG was changed from 36 to 40.
Brain channelopathy v1.40 CSTB_CCCCGCCCCGCG Louise Daugherty Tag STR tag was added to STR: CSTB_CCCCGCCCCGCG.
Brain channelopathy v1.40 CACNA1A_CAG Louise Daugherty Tag STR tag was added to STR: CACNA1A_CAG.
Brain channelopathy v1.40 TBP_CAG Arianna Tucci Classified STR: TBP_CAG as Green List (high evidence)
Brain channelopathy v1.40 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Green List (High Evidence).
Brain channelopathy v1.39 TBP_CAG Arianna Tucci Marked STR: TBP_CAG as ready
Brain channelopathy v1.39 TBP_CAG Arianna Tucci Added comment: Comment when marking as ready: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Brain channelopathy v1.39 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Red List (Low Evidence).
Brain channelopathy v1.39 TBP_CAG Arianna Tucci STR: TBP_CAG was added
STR: TBP_CAG was added to Brain channelopathy. Sources: Expert Review
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: TBP_CAG was marked as current diagnostic
Brain channelopathy v1.38 CACNA1A_CAG Arianna Tucci Marked STR: CACNA1A_CAG as ready
Brain channelopathy v1.38 CACNA1A_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Brain channelopathy v1.38 CACNA1A_CAG Arianna Tucci Str: cacna1a_cag has been classified as Green List (High Evidence).
Brain channelopathy v1.38 CACNA1A_CAG Arianna Tucci Classified STR: CACNA1A_CAG as Green List (high evidence)
Brain channelopathy v1.38 CACNA1A_CAG Arianna Tucci Str: cacna1a_cag has been classified as Green List (High Evidence).
Brain channelopathy v1.37 CACNA1A_CAG Arianna Tucci STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Brain channelopathy. Sources: Expert Review
Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: CACNA1A_CAG was marked as current diagnostic
Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review
Brain channelopathy v1.36 CSTB_CCCCGCCCCGCG Arianna Tucci Marked STR: CSTB_CCCCGCCCCGCG as ready
Brain channelopathy v1.36 CSTB_CCCCGCCCCGCG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Brain channelopathy v1.36 CSTB_CCCCGCCCCGCG Arianna Tucci Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Brain channelopathy v1.36 CSTB_CCCCGCCCCGCG Arianna Tucci Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Brain channelopathy v1.36 CSTB_CCCCGCCCCGCG Arianna Tucci Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Brain channelopathy v1.35 CSTB_CCCCGCCCCGCG Arianna Tucci STR: CSTB_CCCCGCCCCGCG was added
STR: CSTB_CCCCGCCCCGCG was added to Brain channelopathy. Sources: Expert Review
Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal
Brain channelopathy v1.34 ATN1_CAG Arianna Tucci Marked STR: ATN1_CAG as ready
Brain channelopathy v1.34 ATN1_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with GMC experts (6/09/2018) about feeding back STR results
Brain channelopathy v1.34 ATN1_CAG Arianna Tucci Str: atn1_cag has been classified as Green List (High Evidence).
Brain channelopathy v1.34 ATN1_CAG Arianna Tucci Classified STR: ATN1_CAG as Green List (high evidence)
Brain channelopathy v1.34 ATN1_CAG Arianna Tucci Str: atn1_cag has been classified as Green List (High Evidence).
Brain channelopathy v1.33 SPR Sarah Leigh Classified gene: SPR as Green List (high evidence)
Brain channelopathy v1.33 SPR Sarah Leigh Added comment: Comment on list classification: Recommedation from Arianna Tucci to add SPR to this panel
Brain channelopathy v1.33 SPR Sarah Leigh Gene: spr has been classified as Green List (High Evidence).
Brain channelopathy v1.32 SPR Sarah Leigh gene: SPR was added
gene: SPR was added to Brain channelopathy. Sources: Literature
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Review for gene: SPR was set to GREEN
Added comment: According to the recommendations of Arianna Tucci (Genomics England Clinical Fellow), the phenotypes associated with variants in SPR are not associated with epileptic seizures, rather with myoclonic movements as reported in the following publications: PMID 16650784: myoclonic jerks sometimes observed; PMID 21431957: myoclonic movements of hands and face; PMID 28189489 sudden stiffening of the whole body, extension of all extremities, and upward gaze lasting for several minutes often after meals in a 3 month old boy (including during a hospital stay), initially, mistaken for seizures, however 24h video-EEG showed no epileptiform discharges or any EEG correlate. Therefore this phenotype is relevant to the Brain channelopathy panel.
Sources: Literature
Brain channelopathy v1.31 ISCA-37468-Loss Louise Daugherty Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Brain channelopathy. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females)
Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621
Phenotypes for Region: ISCA-37468-Loss were set to episodes of sudden loss of muscle tone; severe intellectual disability; exiting behavior; short stature; eleveated serotonin levels; autistic features; lip-smacking; hypotonia; stereotypical hand movements
Brain channelopathy HTT Ellen McDonagh commented on STR: HTT_CAG
Brain channelopathy HTT Ellen McDonagh Added STR to panel
Brain channelopathy ATN1 Ellen McDonagh Added STR to panel
Brain channelopathy ATN1L~withdrawn Louise Daugherty classified ATN1L~withdrawn as No list
Brain channelopathy ATN1L~withdrawn Arianna Tucci marked ATN1L~withdrawn as ready
Brain channelopathy ATN1 Arianna Tucci marked ATN1 as ready
Brain channelopathy ATN1 Arianna Tucci added ATN1 to panel
Brain channelopathy ATN1 Arianna Tucci reviewed ATN1
Brain channelopathy ATN1L~withdrawn Arianna Tucci added ATN1L~withdrawn to panel
Brain channelopathy ATN1L~withdrawn Arianna Tucci reviewed ATN1L~withdrawn
Brain channelopathy NKX2-1 Arianna Tucci marked NKX2-1 as ready
Brain channelopathy NKX2-1 Arianna Tucci classified NKX2-1 as red
Brain channelopathy HTT Arianna Tucci marked HTT as ready
Brain channelopathy KCNQ3 Arianna Tucci marked KCNQ3 as ready
Brain channelopathy KCNQ3 Arianna Tucci classified KCNQ3 as green
Brain channelopathy KCNQ2 Arianna Tucci marked KCNQ2 as ready
Brain channelopathy KCNQ2 Arianna Tucci classified KCNQ2 as green
Brain channelopathy SCN9A Arianna Tucci marked SCN9A as ready
Brain channelopathy KCNQ3 Arianna Tucci added KCNQ3 to panel
Brain channelopathy KCNQ3 Arianna Tucci reviewed KCNQ3
Brain channelopathy KCNQ2 Arianna Tucci added KCNQ2 to panel
Brain channelopathy KCNQ2 Arianna Tucci reviewed KCNQ2
Brain channelopathy ADCY5 Arianna Tucci marked ADCY5 as ready
Brain channelopathy ADCY5 Arianna Tucci commented on ADCY5
Brain channelopathy ADCY5 Arianna Tucci marked ADCY5 as ready
Brain channelopathy ADCY5 Arianna Tucci classified ADCY5 as green
Brain channelopathy SLC6A5 Arianna Tucci marked SLC6A5 as ready
Brain channelopathy SLC6A5 Arianna Tucci classified SLC6A5 as green
Brain channelopathy GLRB Arianna Tucci marked GLRB as ready
Brain channelopathy GLRB Arianna Tucci classified GLRB as green
Brain channelopathy GLRA1 Arianna Tucci marked GLRA1 as ready
Brain channelopathy GLRA1 Arianna Tucci classified GLRA1 as green
Brain channelopathy ATP7B Arianna Tucci marked ATP7B as ready
Brain channelopathy ATP7B Arianna Tucci classified ATP7B as green
Brain channelopathy ATP7B Arianna Tucci marked ATP7B as ready
Brain channelopathy KCNK18 Arianna Tucci marked KCNK18 as ready
Brain channelopathy SLC2A1 Arianna Tucci marked SLC2A1 as ready
Brain channelopathy SLC1A3 Arianna Tucci marked SLC1A3 as ready
Brain channelopathy SCN8A Arianna Tucci marked SCN8A as ready
Brain channelopathy SCN1A Arianna Tucci marked SCN1A as ready
Brain channelopathy PRRT2 Arianna Tucci marked PRRT2 as ready
Brain channelopathy PNKD Arianna Tucci marked PNKD as ready
Brain channelopathy PNKD Arianna Tucci commented on PNKD
Brain channelopathy KCNA1 Arianna Tucci marked KCNA1 as ready
Brain channelopathy CACNB4 Arianna Tucci marked CACNB4 as ready
Brain channelopathy CACNA1A Arianna Tucci marked CACNA1A as ready
Brain channelopathy ATP1A3 Arianna Tucci marked ATP1A3 as ready
Brain channelopathy ATP1A3 Arianna Tucci commented on ATP1A3
Brain channelopathy ATP1A2 Arianna Tucci marked ATP1A2 as ready
Brain channelopathy Arianna Tucci promoted panel to version 1
Brain channelopathy HTT Arianna Tucci marked HTT as ready
Brain channelopathy HTT Arianna Tucci added HTT to panel
Brain channelopathy HTT Arianna Tucci reviewed HTT
Brain channelopathy NKX2-1 Arianna Tucci added NKX2-1 to panel
Brain channelopathy NKX2-1 Arianna Tucci reviewed NKX2-1
Brain channelopathy ATP7B Arianna Tucci marked ATP7B as ready
Brain channelopathy ATP7B Arianna Tucci added ATP7B to panel
Brain channelopathy ATP7B Arianna Tucci reviewed ATP7B
Brain channelopathy KCNK18 Arianna Tucci marked KCNK18 as ready
Brain channelopathy KCNK18 Arianna Tucci classified KCNK18 as amber
Brain channelopathy KCNK18 Arianna Tucci commented on KCNK18
Brain channelopathy ADCY5 Arianna Tucci marked ADCY5 as ready
Brain channelopathy SCN8A Arianna Tucci marked SCN8A as ready
Brain channelopathy SCN8A Arianna Tucci classified SCN8A as green
Brain channelopathy SCN9A Arianna Tucci marked SCN9A as ready
Brain channelopathy SCN9A Arianna Tucci commented on SCN9A
Brain channelopathy SCN9A Arianna Tucci classified SCN9A as red
Brain channelopathy SLC2A1 Arianna Tucci marked SLC2A1 as ready
Brain channelopathy SLC2A1 Arianna Tucci commented on SLC2A1
Brain channelopathy SLC1A3 Arianna Tucci marked SLC1A3 as ready
Brain channelopathy SLC1A3 Arianna Tucci commented on SLC1A3
Brain channelopathy SCN1A Arianna Tucci commented on SCN1A
Brain channelopathy SCN1A Arianna Tucci marked SCN1A as ready
Brain channelopathy PRRT2 Arianna Tucci marked PRRT2 as ready
Brain channelopathy PRRT2 Arianna Tucci commented on PRRT2
Brain channelopathy PNKD Arianna Tucci marked PNKD as ready
Brain channelopathy PNKD Arianna Tucci marked PNKD as ready
Brain channelopathy KCNA1 Arianna Tucci marked KCNA1 as ready
Brain channelopathy KCNA1 Arianna Tucci commented on KCNA1
Brain channelopathy CACNB4 Arianna Tucci marked CACNB4 as ready
Brain channelopathy CACNB4 Arianna Tucci commented on CACNB4
Brain channelopathy CACNA1A Arianna Tucci marked CACNA1A as ready
Brain channelopathy CACNA1A Arianna Tucci commented on CACNA1A
Brain channelopathy ATP1A3 Arianna Tucci classified ATP1A3 as green
Brain channelopathy SCN8A Arianna Tucci added SCN8A to panel
Brain channelopathy SCN8A Arianna Tucci reviewed SCN8A
Brain channelopathy ATP1A2 Arianna Tucci classified ATP1A2 as green
Brain channelopathy ATP1A2 Arianna Tucci classified ATP1A2 as green
Brain channelopathy ATP1A2 Arianna Tucci classified ATP1A2 as green
Brain channelopathy ATP1A2 Arianna Tucci classified ATP1A2 as green
Brain channelopathy ATP1A2 Arianna Tucci classified ATP1A2 as green
Brain channelopathy ATP1A2 Arianna Tucci classified ATP1A2 as green
Brain channelopathy ATP1A3 Arianna Tucci marked ATP1A3 as ready
Brain channelopathy ATP1A2 Arianna Tucci marked ATP1A2 as ready
Brain channelopathy ATP1A2 Arianna Tucci commented on ATP1A2
Brain channelopathy SLC6A5 Arianna Tucci added SLC6A5 to panel
Brain channelopathy SLC6A5 Arianna Tucci reviewed SLC6A5
Brain channelopathy GLRB Arianna Tucci added GLRB to panel
Brain channelopathy GLRB Arianna Tucci reviewed GLRB
Brain channelopathy GLRA1 Arianna Tucci added GLRA1 to panel
Brain channelopathy GLRA1 Arianna Tucci reviewed GLRA1
Brain channelopathy ADCY5 Arianna Tucci added ADCY5 to panel
Brain channelopathy ADCY5 Arianna Tucci reviewed ADCY5
Brain channelopathy KCNK18 Arianna Tucci reviewed KCNK18
Brain channelopathy SLC2A1 Arianna Tucci reviewed SLC2A1
Brain channelopathy PNKD Arianna Tucci reviewed PNKD
Brain channelopathy PRRT2 Arianna Tucci reviewed PRRT2
Brain channelopathy ATP1A3 Arianna Tucci reviewed ATP1A3
Brain channelopathy SCN1A Arianna Tucci reviewed SCN1A
Brain channelopathy ATP1A2 Arianna Tucci reviewed ATP1A2
Brain channelopathy SLC1A3 Arianna Tucci reviewed SLC1A3
Brain channelopathy CACNB4 Arianna Tucci reviewed CACNB4
Brain channelopathy CACNA1A Arianna Tucci reviewed CACNA1A
Brain channelopathy KCNA1 Arianna Tucci reviewed KCNA1