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Early onset or syndromic epilepsy v8.183 CACNA1D Ida Ertmanska edited their review of gene: CACNA1D: Changed publications to: 21131953, 30498240, 30054272, 32747562, 23913001, 2847230, 37122292
Early onset or syndromic epilepsy v8.183 CACNA1D Ida Ertmanska Phenotypes for gene: CACNA1D were changed from Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD; Sinoatrial node dysfunction and deafness 614896 AR to Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474; aldosterone-producing adenoma with seizures and neurological abnormalities, MONDO:0014200
Early onset or syndromic epilepsy v8.182 CACNA1D Ida Ertmanska Publications for gene: CACNA1D were set to 28472301; 23913001; 30698561; 30054272
Early onset or syndromic epilepsy v8.181 CACNA1D Ida Ertmanska Tag Q2_26_MOI tag was added to gene: CACNA1D.
Early onset or syndromic epilepsy v8.181 CACNA1D Ida Ertmanska changed review comment from: Comment on mode of inheritance: Individuals reported with biallelic CACNA1D variants present with deafness and sinoatrial node dysfunction - no epilepsy or cognitive impairment (PMIDs: 21131953; 30498240; 30054272; 32747562). Monoallelic de novo variants result in primary aldosteronism, seizures, and neurologic abnormalities (e.g., PMIDs: 23913001, 2847230; 37122292). The literature review by Alzahrani et al., 2023 (PMID: 37122292) states that intellectual disability affects 80% of patients, and seizures are present in 47% of cases of the dominant disorder. Hence, the mode of inheritance on Early onset or syndromic epilepsy should be changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted at the next update.; to: Comment on mode of inheritance: Individuals reported with biallelic CACNA1D variants present with deafness and sinoatrial node dysfunction - no epilepsy or cognitive impairment (PMIDs: 21131953; 30498240; 30054272; 32747562). Monoallelic de novo variants result in primary aldosteronism, seizures, and neurologic abnormalities (more than 3 unrelated cases e.g., PMIDs: 23913001, 2847230; 37122292). The literature review by Alzahrani et al., 2023 (PMID: 37122292) states that intellectual disability affects 80% of patients, and seizures are present in 47% of cases of the dominant disorder. Hence, the mode of inheritance on Early onset or syndromic epilepsy should be changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted at the next update.
Early onset or syndromic epilepsy v8.181 CACNA1D Ida Ertmanska changed review comment from: Comment on mode of inheritance: Individuals reported with biallelic CACNA1D variants present with deafness and sinoatrial node dysfunction - no epilepsy or cognitive impairment (PMIDs: 21131953; 30498240; 30054272; 32747562). Monoallelic de novo variants result in primary aldosteronism, seizures, and neurologic abnormalities (e.g., PMIDs: 23913001, 28472301, PMID: 37122292). The literature review by Alzahrani et al., 2023 (PMID: 37122292) states that intellectual disability affects 80% of patients, and seizures are present in 47% of cases of the dominant disorder. Hence, the mode of inheritance on Early onset or syndromic epilepsy should be changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted at the next update.; to: Comment on mode of inheritance: Individuals reported with biallelic CACNA1D variants present with deafness and sinoatrial node dysfunction - no epilepsy or cognitive impairment (PMIDs: 21131953; 30498240; 30054272; 32747562). Monoallelic de novo variants result in primary aldosteronism, seizures, and neurologic abnormalities (e.g., PMIDs: 23913001, 2847230; 37122292). The literature review by Alzahrani et al., 2023 (PMID: 37122292) states that intellectual disability affects 80% of patients, and seizures are present in 47% of cases of the dominant disorder. Hence, the mode of inheritance on Early onset or syndromic epilepsy should be changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted at the next update.
Early onset or syndromic epilepsy v8.181 CACNA1D Ida Ertmanska reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131953, 30498240, 30054272, 32747562; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474, aldosterone-producing adenoma with seizures and neurological abnormalities, MONDO:0014200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.274 CACNA1D Rebecca Foulger Marked gene: CACNA1D as ready
Early onset or syndromic epilepsy v1.274 CACNA1D Rebecca Foulger Gene: cacna1d has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.274 CACNA1D Rebecca Foulger Added comment: Comment on mode of inheritance: Kept Mode of Inheritance as 'BOTH monoallelic and biallelic' based on post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.274 CACNA1D Rebecca Foulger Mode of inheritance for gene: CACNA1D was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.262 CACNA1D Rebecca Foulger commented on gene: CACNA1D: Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.261 CACNA1D Helen Lord reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.191 CACNA1D Rebecca Foulger Source Wessex and West Midlands GLH was added to CACNA1D.
Early onset or syndromic epilepsy v1.190 CACNA1D Rebecca Foulger Source NHS GMS was added to CACNA1D.
Early onset or syndromic epilepsy v1.189 CACNA1D Rebecca Foulger edited their review of gene: CACNA1D: Added comment: Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 CACNA1D Tracy Lester reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 23913001 , 28472301 ; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities,615474, Sinoatrial node dysfunction and deafness,614896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.159 CACNA1D Rebecca Foulger Mode of pathogenicity for gene: CACNA1D was changed from None to Other
Early onset or syndromic epilepsy v1.158 CACNA1D Rebecca Foulger Publications for gene: CACNA1D were set to 28472301; 23913001; 30698561
Early onset or syndromic epilepsy v1.157 CACNA1D Rebecca Foulger Added comment: Comment on mode of inheritance: Primary aldosteronism, seizures, and neurologic abnormalities (MIM: 615474) has AD inheritance. Seizures are not generally reported for the biallelic disorder Sinoatrial node dysfunction and deafness (MIM:614896). However, PMID:30054272 report an Arabic individual from consanguineous parents with moderate hearing impairment, ID, DD and epilepsy and a homozygous missense variant in CACNA1D (Gln567His). Seizures began age 4 months. The individual also had a homozygous OTOG variant, but this was present in a heterozygous state in the gnomAD browser. Both parents were heterozygous for the OTOG and CACNA1D variants.
Early onset or syndromic epilepsy v1.157 CACNA1D Rebecca Foulger Mode of inheritance for gene: CACNA1D was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.156 CACNA1D Rebecca Foulger Publications for gene: CACNA1D were set to 28472301; 23913001
Early onset or syndromic epilepsy CACNA1D Sarah Leigh Added gene to panel