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| Cardiac arrhythmias - additional genes v3.11 | CACNA1D | Ida Ertmanska changed review comment from: Comment on list classification: There are more than 3 unrelated families reported with biallelic CACNA1D variants and sinoatrial node dysfunction, resulting in sinus bradycardia, arrhythmia, prolonged atrioventricular conduction. Heterozygous individuals in those families were asymptomatic. Hence, this gene should be promoted to Green at the next update, with MOI set to BIALLELIC, autosomal or pseudoautosomal.; to: Comment on list classification: There are more than 3 unrelated families reported with biallelic CACNA1D variants and sinoatrial node dysfunction, resulting in sinus bradycardia, arrhythmia, prolonged atrioventricular conduction. Heterozygous individuals in those families were asymptomatic. Mouse model is supportive of gene-disease association. Hence, this gene should be promoted to Green at the next update, with MOI set to BIALLELIC, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v3.11 | CACNA1D | Ida Ertmanska changed review comment from: Comment on list classification: There are more than 3 unrelated families reported with biallelic CACNA1D variants and sinoatrial node dysfunction, resulting in sinus bradycardia / sinus arrest. Heterozygous individuals in those families were asymptomatic. Hence, this gene should be promoted to Green at the next update, with MOI set to BIALLELIC, autosomal or pseudoautosomal.; to: Comment on list classification: There are more than 3 unrelated families reported with biallelic CACNA1D variants and sinoatrial node dysfunction, resulting in sinus bradycardia, arrhythmia, prolonged atrioventricular conduction. Heterozygous individuals in those families were asymptomatic. Hence, this gene should be promoted to Green at the next update, with MOI set to BIALLELIC, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v3.11 | CACNA1D | Ida Ertmanska Classified gene: CACNA1D as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v3.11 | CACNA1D | Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated families reported with biallelic CACNA1D variants and sinoatrial node dysfunction, resulting in sinus bradycardia / sinus arrest. Heterozygous individuals in those families were asymptomatic. Hence, this gene should be promoted to Green at the next update, with MOI set to BIALLELIC, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v3.11 | CACNA1D | Ida Ertmanska Gene: cacna1d has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v3.10 | CACNA1D |
Ida Ertmanska gene: CACNA1D was added gene: CACNA1D was added to Cardiac arrhythmias - additional genes. Sources: Literature Q2_26_promote_green tags were added to gene: CACNA1D. Mode of inheritance for gene: CACNA1D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA1D were set to 21131953; 30498240; 30054272; 32747562 Phenotypes for gene: CACNA1D were set to Sinoatrial node dysfunction and deafness, OMIM:614896; sinoatrial node dysfunction and deafness, MONDO:0013960 Review for gene: CACNA1D was set to GREEN Added comment: PMID: 21131953 Baig et al., 2011 Report of 2 consanguineous Pakistani families with bradycardia and congenital deafness, harbouring c.1208_1209insGGG (p.Gly403_Val404insGly) variant in CACNA1D. PMID: 30498240 Liaqat et al., 2018 5 Pakistani families with Sinoatrial node dysfunction and deafness and homozygous CACNA1D variants- 1 family with p.(A376V), and 4 pedigrees with a founder variant p.(G403_V404insG) - common distant ancestor confirmed, same as families in PMID: 21131953. PMID: 30054272 Garza-Lopez et al., 2018 Male proband of Arabic descent with moderate hearing impairment and intellectual disability, homozygous for CACNA1D c.1701G>C, p.Gln567His variant. PMID: 32747562 Rayyan et al., 2020 Palestinian population study of 491 families with hearing loss. In 4 families, the same homozygous CACNA1D p.(Ala376Val) founder variant was found to be responsible for moderate hearing loss associated with cardiac anomalies, including prolonged atrioventricular conduction on an electrocardiogram. Functional evidence: PMID: 10929716 Platzer et al., 2000 - Cacna1d-deficient mice were deaf due to degeneration of outer and inner hair cells. Electrocardiogram recordings revealed sinoatrial node dysfunction (bradycardia and arrhythmia). The link between CACNA1D and autosomal recessive sinoatrial node dysfunction and deafness has been classified as Moderate in ClinGen (Hearing loss GCEP, 2024). Sources: Literature |
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