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Monogenic hearing loss v5.70 CACNA1D Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: CACNA1D.
Monogenic hearing loss v5.70 CACNA1D Ida Ertmanska Phenotypes for gene: CACNA1D were changed from Sinoatrial node dysfunction and deafness, 614896 to Sinoatrial node dysfunction and deafness, OMIM:614896; sinoatrial node dysfunction and deafness, MONDO:0013960
Monogenic hearing loss v5.69 CACNA1D Ida Ertmanska Publications for gene: CACNA1D were set to 21131953; 30498240; 30054272; 32747562
Monogenic hearing loss v5.68 CACNA1D Ida Ertmanska changed review comment from: 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.

The link between CACNA1D and autosomal recessive sinoatrial node dysfunction and deafness has been classified as Moderate in ClinGen (Hearing loss GCEP, 2024).; to: 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).
Monogenic hearing loss v5.68 CACNA1D Ida Ertmanska changed review comment from: Comment on list classification: There are more than 3 unrelated families reported with biallelic CACNA1D variants and hearing loss. Hence, this gene should be promoted to Green at the next update.; to: Comment on list classification: There are more than 3 unrelated families reported with biallelic CACNA1D variants and hearing loss. 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.
Monogenic hearing loss v5.68 CACNA1D Ida Ertmanska Publications for gene: CACNA1D were set to 21131953; 30498240; 32747562
Monogenic hearing loss v5.67 CACNA1D Ida Ertmanska edited their review of gene: CACNA1D: Changed phenotypes to: Sinoatrial node dysfunction and deafness, OMIM:614896, sinoatrial node dysfunction and deafness, MONDO:0013960
Monogenic hearing loss v5.67 CACNA1D Ida Ertmanska edited their review of gene: CACNA1D: Changed publications to: 21131953, 30498240, 30054272, 32747562
Monogenic hearing loss v5.67 CACNA1D Ida Ertmanska Mode of inheritance for gene: CACNA1D was changed from to BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v5.66 CACNA1D Ida Ertmanska Publications for gene: CACNA1D were set to
Monogenic hearing loss v5.65 CACNA1D Ida Ertmanska Classified gene: CACNA1D as Amber List (moderate evidence)
Monogenic hearing loss v5.65 CACNA1D Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated families reported with biallelic CACNA1D variants and hearing loss. Hence, this gene should be promoted to Green at the next update.
Monogenic hearing loss v5.65 CACNA1D Ida Ertmanska Gene: cacna1d has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v5.64 CACNA1D Ida Ertmanska reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131953, 30498240, 32747562; Phenotypes: Sinoatrial node dysfunction and deafness, OMIM:614896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal