Activity
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| Short QT syndrome v3.25 | CACNA1C | Ida Ertmanska commented on gene: CACNA1C: Comment on list classification: There are several individuals reported in literature with monoallelic CACNA1C variants and Short QT Syndrome (SQTS), or Brugada syndrome with SQTS. However, this association has been classified as Disputed in ClinGen. Some allele frequencies are too high in population databases, there is little functional evidence supporting the variant pathogenicity, and most variants are ranked as VUS according to ACMG criteria. There is no robust evidence linking SQTS to CACNA1C variants. Hence this gene should be demoted at the next GMS update. An expert-review tag was added as this is a proposed demotion of a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v3.25 | CACNA1C | Ida Ertmanska edited their review of gene: CACNA1C: Changed phenotypes to: Brugada syndrome 3, OMIM:611875, Timothy syndrome, OMIM:601005, Long QT syndrome 8, OMIM:618447 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v3.25 | CACNA1C | Ida Ertmanska Publications for gene: CACNA1C were set to 24291113; 16301704; 30027834; 30279520; 17224476; 28427417; 28490369; 29759541; 29697308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v3.24 | CACNA1C | Ida Ertmanska Tag Q3_26_expert_review tag was added to gene: CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v3.24 | CACNA1C | Ida Ertmanska Tag Q3_26_demote_amber tag was added to gene: CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v3.24 | CACNA1C | Ida Ertmanska edited their review of gene: CACNA1C: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v3.24 | CACNA1C |
Ida Ertmanska changed review comment from: The association between CANCA1C and AD short QT syndrome has been classified as Disputed in ClinGen (Aug 2020, Short QT Syndrome Expert Panel). Evidence summary: PMID 24291113 - de novo CACNA1C variant reported, the gnomAD MAF was regarded as too high for a rare condition such as SQTS; no other evidence supporting this variant’s impact. PMIDs 17224476, 20817017 - 3 probands had Brugada syndrome with a relatively short QT interval - not isolated SQTS PMID 28427417 - proband with hypertrophic cardiomyopathy without a convincing SQTS phenotype PMID: 30571592 El-Battrawy et al., 2018 Long-term follow up of patients with CACNA1C variant G490R and SQTS (3 members of same family). 1 individual had no clinical symptoms, 1 had palpitations, and third individual had both palpitations and Atrial fibrillation. CACNA1C p.Gly490Arg variant is common in gnomAD (total AF = 0.0003994, with 4 homozygotes reported) - too common to cause AD disease. B/LB in ClinGen. PMID: 39503779 Martínez-Barrios et al., 2024 - lit review "Four rare missense variants have been reported in the CACNA1C gene associated with phenotypes, showing a reduction in the QT interval (p.Ala39Val, p.Gly490Arg, p.Lys800Thr and p.Arg1973Pro). Concretely, three variants were reported in cases diagnosed with BrS and stnQT (p.Ala39Val, p.Gly490Arg and p.Arg1973Pro) and one additional rare variant was reported in a patient diagnosed with ASD and stnQT (p.Lys800Thr). All these rare variants are currently classified as VUS, following ACMG recommendations."; to: The association between CACNA1C and AD short QT syndrome has been classified as Disputed in ClinGen (Aug 2020, Short QT Syndrome Expert Panel). Evidence summary: PMID 24291113 - de novo CACNA1C variant reported, the gnomAD MAF was regarded as too high for a rare condition such as SQTS; no other evidence supporting this variant’s impact. PMIDs 17224476, 20817017 - 3 probands had Brugada syndrome with a relatively short QT interval - not isolated SQTS PMID 28427417 - proband with hypertrophic cardiomyopathy without a convincing SQTS phenotype CACNA1C association with AD Brugada syndrome is also Disputed in ClinGen as of 2025: "Many reported variants in CACNA1C are too common in population databases, and functional studies have shown that both common and rare variants can produce similar effects [PMID: 17224476, 20817017]." PMID: 30571592 El-Battrawy et al., 2018 Long-term follow up of patients with CACNA1C variant G490R and SQTS (3 members of same family). 1 individual had no clinical symptoms, 1 had palpitations, and third individual had both palpitations and Atrial fibrillation. CACNA1C p.Gly490Arg variant is common in gnomAD (total AF = 0.0003994, with 4 homozygotes reported) - too common to cause AD disease. B/LB in ClinGen. PMID: 34999275 Novelli et al., 2022 563 BrS probands underwent CACNA1C sequencing - identified 11 different rare variants in 9 patients. Most of these were classified as VUS according to ACMG criteria. "CACNA1C is an infrequent but definitive cause of BrS typically associated with short QT." PMID: 39503779 Martínez-Barrios et al., 2024 - lit review "Four rare missense variants have been reported in the CACNA1C gene associated with phenotypes, showing a reduction in the QT interval (p.Ala39Val, p.Gly490Arg, p.Lys800Thr and p.Arg1973Pro). Concretely, three variants were reported in cases diagnosed with BrS and stnQT (p.Ala39Val, p.Gly490Arg and p.Arg1973Pro) and one additional rare variant was reported in a patient diagnosed with ASD and stnQT (p.Lys800Thr). All these rare variants are currently classified as VUS, following ACMG recommendations." |
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| Short QT syndrome v3.24 | CACNA1C |
Ida Ertmanska changed review comment from: The association between CANCA1C and AD short QT syndrome has been classified as Disputed in ClinGen (Aug 2020, Short QT Syndrome Expert Panel). Evidence summary: PMID 24291113 - de novo CACNA1C variant reported, the gnomAD MAF was regarded as too high for a rare condition such as SQTS; no other evidence supporting this variant’s impact. PMIDs 17224476, 20817017 - 3 probands had Brugada syndrome with a relatively short QT interval - not isolated SQTS PMID 28427417 - proband with hypertrophic cardiomyopathy without a convincing SQTS phenotype PMID: 30571592 El-Battrawy et al., 2018 Long-term follow up of patients with CACNA1C variant G490R and SQTS (3 members of same family). 1 individual had no clinical symptoms, 1 had palpitations, and third individual had both palpitations and Atrial fibrillation. CACNA1C p.Gly490Arg variant is common in gnomAD (total AF = 0.0003994, with 4 homozygotes reported) - too common to cause AD disease. PMID: 39503779 Martínez-Barrios et al., 2024 - lit review "Four rare missense variants have been reported in the CACNA1C gene associated with phenotypes, showing a reduction in the QT interval (p.Ala39Val, p.Gly490Arg, p.Lys800Thr and p.Arg1973Pro). Concretely, three variants were reported in cases diagnosed with BrS and stnQT (p.Ala39Val, p.Gly490Arg and p.Arg1973Pro) and one additional rare variant was reported in a patient diagnosed with ASD and stnQT (p.Lys800Thr). All these rare variants are currently classified as VUS, following ACMG recommendations."; to: The association between CANCA1C and AD short QT syndrome has been classified as Disputed in ClinGen (Aug 2020, Short QT Syndrome Expert Panel). Evidence summary: PMID 24291113 - de novo CACNA1C variant reported, the gnomAD MAF was regarded as too high for a rare condition such as SQTS; no other evidence supporting this variant’s impact. PMIDs 17224476, 20817017 - 3 probands had Brugada syndrome with a relatively short QT interval - not isolated SQTS PMID 28427417 - proband with hypertrophic cardiomyopathy without a convincing SQTS phenotype PMID: 30571592 El-Battrawy et al., 2018 Long-term follow up of patients with CACNA1C variant G490R and SQTS (3 members of same family). 1 individual had no clinical symptoms, 1 had palpitations, and third individual had both palpitations and Atrial fibrillation. CACNA1C p.Gly490Arg variant is common in gnomAD (total AF = 0.0003994, with 4 homozygotes reported) - too common to cause AD disease. B/LB in ClinGen. PMID: 39503779 Martínez-Barrios et al., 2024 - lit review "Four rare missense variants have been reported in the CACNA1C gene associated with phenotypes, showing a reduction in the QT interval (p.Ala39Val, p.Gly490Arg, p.Lys800Thr and p.Arg1973Pro). Concretely, three variants were reported in cases diagnosed with BrS and stnQT (p.Ala39Val, p.Gly490Arg and p.Arg1973Pro) and one additional rare variant was reported in a patient diagnosed with ASD and stnQT (p.Lys800Thr). All these rare variants are currently classified as VUS, following ACMG recommendations." |
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| Short QT syndrome v3.24 | CACNA1C |
Ida Ertmanska changed review comment from: The association between CANCA1C and AD short QT syndrome has been classified as Disputed in ClinGen (Aug 2020, Short QT Syndrome Expert Panel). Evidence summary: PMID 24291113 - de novo CACNA1C variant reported, the gnomAD MAF was regarded as too high for a rare condition such as SQTS; no other evidence supporting this variant’s impact. PMIDs 17224476, 20817017 - 3 probands had Brugada syndrome with a relatively short QT interval - not isolated SQTS PMID 28427417 - proband with hypertrophic cardiomyopathy without a convincing SQTS phenotype PMID: 30571592 El-Battrawy et al., 2018 Long-term follow up of patients with CACNA1C variant G490R and SQTS (3 members of same family). 1 individual had no clinical symptoms, 1 had palpitations, and third individual had both palpitations and Atrial fibrillation. PMID: 39503779 Martínez-Barrios et al., 2024 - lit review "Four rare missense variants have been reported in the CACNA1C gene associated with phenotypes, showing a reduction in the QT interval (p.Ala39Val, p.Gly490Arg, p.Lys800Thr and p.Arg1973Pro). Concretely, three variants were reported in cases diagnosed with BrS and stnQT (p.Ala39Val, p.Gly490Arg and p.Arg1973Pro) and one additional rare variant was reported in a patient diagnosed with ASD and stnQT (p.Lys800Thr). All these rare variants are currently classified as VUS, following ACMG recommendations."; to: The association between CANCA1C and AD short QT syndrome has been classified as Disputed in ClinGen (Aug 2020, Short QT Syndrome Expert Panel). Evidence summary: PMID 24291113 - de novo CACNA1C variant reported, the gnomAD MAF was regarded as too high for a rare condition such as SQTS; no other evidence supporting this variant’s impact. PMIDs 17224476, 20817017 - 3 probands had Brugada syndrome with a relatively short QT interval - not isolated SQTS PMID 28427417 - proband with hypertrophic cardiomyopathy without a convincing SQTS phenotype PMID: 30571592 El-Battrawy et al., 2018 Long-term follow up of patients with CACNA1C variant G490R and SQTS (3 members of same family). 1 individual had no clinical symptoms, 1 had palpitations, and third individual had both palpitations and Atrial fibrillation. CACNA1C p.Gly490Arg variant is common in gnomAD (total AF = 0.0003994, with 4 homozygotes reported) - too common to cause AD disease. PMID: 39503779 Martínez-Barrios et al., 2024 - lit review "Four rare missense variants have been reported in the CACNA1C gene associated with phenotypes, showing a reduction in the QT interval (p.Ala39Val, p.Gly490Arg, p.Lys800Thr and p.Arg1973Pro). Concretely, three variants were reported in cases diagnosed with BrS and stnQT (p.Ala39Val, p.Gly490Arg and p.Arg1973Pro) and one additional rare variant was reported in a patient diagnosed with ASD and stnQT (p.Lys800Thr). All these rare variants are currently classified as VUS, following ACMG recommendations." |
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| Short QT syndrome v3.24 | CACNA1C |
Ida Ertmanska changed review comment from: The association between CANCA1C and AD short QT syndrome has been classified as Disputed in ClinGen (Aug 2020, Short QT Syndrome Expert Panel). Evidence summary: PMID 24291113 - de novo CACNA1C variant reported, the gnomAD MAF was regarded as too high for a rare condition such as SQTS; no other evidence supporting this variant’s impact. PMIDs 17224476, 20817017 - 3 probands had Brugada syndrome with a relatively short QT interval - not isolated SQTS PMID 28427417 - proband with hypertrophic cardiomyopathy without a convincing SQTS phenotype; to: The association between CANCA1C and AD short QT syndrome has been classified as Disputed in ClinGen (Aug 2020, Short QT Syndrome Expert Panel). Evidence summary: PMID 24291113 - de novo CACNA1C variant reported, the gnomAD MAF was regarded as too high for a rare condition such as SQTS; no other evidence supporting this variant’s impact. PMIDs 17224476, 20817017 - 3 probands had Brugada syndrome with a relatively short QT interval - not isolated SQTS PMID 28427417 - proband with hypertrophic cardiomyopathy without a convincing SQTS phenotype PMID: 30571592 El-Battrawy et al., 2018 Long-term follow up of patients with CACNA1C variant G490R and SQTS (3 members of same family). 1 individual had no clinical symptoms, 1 had palpitations, and third individual had both palpitations and Atrial fibrillation. PMID: 39503779 Martínez-Barrios et al., 2024 - lit review "Four rare missense variants have been reported in the CACNA1C gene associated with phenotypes, showing a reduction in the QT interval (p.Ala39Val, p.Gly490Arg, p.Lys800Thr and p.Arg1973Pro). Concretely, three variants were reported in cases diagnosed with BrS and stnQT (p.Ala39Val, p.Gly490Arg and p.Arg1973Pro) and one additional rare variant was reported in a patient diagnosed with ASD and stnQT (p.Lys800Thr). All these rare variants are currently classified as VUS, following ACMG recommendations." |
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| Short QT syndrome v3.24 | CACNA1C | Ida Ertmanska reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: None; Publications: 17224476, 20817017, 24291113, 28427417; Phenotypes: Brugada syndrome 3, OMIM:611875, Timothy syndrome, OMIM:601005, Long QT syndrome 8, OMIM:618447, Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, OMIM:620029; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v3.24 | CACNA1C | Ida Ertmanska Tag disputed tag was added to gene: CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v2.14 | CACNA1C | Eleanor Williams Phenotypes for gene: CACNA1C were changed from Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; Short QT; CACNA1C-related disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v2.13 | CACNA1C | Eleanor Williams Phenotypes for gene: CACNA1C were changed from Brugada syndrome 3 611875; syncope; brugada syndrome; scd; Brugada syndrome 3 (611875); short qt; Timothy syndrome (601005) to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v2.12 | CACNA1C | Ivone Leong Tag for-review was removed from gene: CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v2.12 | CACNA1C | Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v2.12 | CACNA1C | Ivone Leong commented on gene: CACNA1C: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v2.3 | CACNA1C | Ivone Leong Tag for-review tag was added to gene: CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v2.3 | CACNA1C | Zornitza Stark reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.23 | CACNA1C | Ivone Leong reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.20 | CACNA1C | Ivone Leong Source West Midlands, Oxford and Wessex GLH was added to CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.16 | CACNA1C | Ivone Leong Publications for gene: CACNA1C were set to 24291113; 16301704 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.10 | CACNA1C | Rebecca Whittington commented on gene: CACNA1C: Timothy syndrome (601005); Brugada syndrome 3 (611875) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.9 | CACNA1C | Rebecca Whittington commented on gene: CACNA1C: Not associated with SQT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.8 | CACNA1C | Rebecca Whittington reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.7 | CACNA1C | Ellen McDonagh Source South West GLH was added to CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.6 | CACNA1C | Ellen McDonagh reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.5 | CACNA1C | Ellen McDonagh Source London South GLH was added to CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.4 | CACNA1C | James Eden reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 24291113, 16301704; Phenotypes: Brugada syndrome 3 (611875), Timothy syndrome (601005); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.3 | CACNA1C |
Ellen McDonagh Source North West GLH was added to CACNA1C. Added phenotypes Brugada syndrome 3 (611875); Timothy syndrome (601005) for gene: CACNA1C Publications for gene CACNA1C were changed from 17224476; 28427417; 28490369; 29759541; 29697308 to 24291113; 16301704 |
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| Short QT syndrome v1.2 | CACNA1C | Oxford Medical Genetics Laboratory reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.23 | CACNA1C | Louise Daugherty Added comment: Comment on publications: removed inclusion of PMID | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.23 | CACNA1C | Louise Daugherty Publications for gene: CACNA1C were set to PMID: 17224476; 28427417; 28490369; 29759541; 29697308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.4 | CACNA1C | Sarah Leigh reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 30027834, 30279520; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.2 | CACNA1C |
Sarah Leigh Source Emory Genetics Laboratory was added to CACNA1C. Source Long QT syndrome (Version 1.5) was added to CACNA1C. Source Expert Review Green was added to CACNA1C. Source UKGTN was added to CACNA1C. Source Brugada syndrome (Version 1.7) was added to CACNA1C. Added phenotypes Brugada syndrome 3 611875 for gene: CACNA1C Rating Changed from No List (delete) to Green List (high evidence) |
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| Short QT syndrome v0.1 | CACNA1C |
Jules Hancox gene: CACNA1C was added gene: CACNA1C was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1C were set to PMID: 17224476; 28427417; 28490369; 29759541; 29697308 Phenotypes for gene: CACNA1C were set to short qt; brugada syndrome; syncope; scd Review for gene: CACNA1C was set to GREEN Added comment: Encodes alpha subunit of L-type Ca channels. Mutations are loss of function and lead to a mixed short QT/Brugada phenotype Sources: Literature |
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