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| Intellectual disability v9.387 | 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 (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.; 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 Intellectual disability should be changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.382 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.381 | CACNA1D | Ida Ertmanska Publications for gene: CACNA1D were set to 28472301; 23913001 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.380 | CACNA1D | Ida Ertmanska Tag Q2_26_MOI tag was added to gene: CACNA1D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.380 | CACNA1D | Ida Ertmanska reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131953, 30498240, 30054272, 32747562, 23913001, 2847230, 37122292; 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.797 | CACNA1D | Ivone Leong Source: Expert Review Red was removed from gene: CACNA1D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||