| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early onset or syndromic epilepsy v3.46 | CACNA1C | Eleanor Williams Added comment: Comment on phenotypes: Adding back the phenotype of 'CACNA1C-related disorder' as this was specifically asked to be added by NHSE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.46 | CACNA1C | Eleanor Williams Phenotypes for gene: CACNA1C were changed from Timothy syndrome OMIM:601005 to Timothy syndrome OMIM:601005; CACNA1C-related disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.29 | CACNA1C | Arina Puzriakova reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.28 | CACNA1C |
Arina Puzriakova Source Expert Review Green was added to CACNA1C. Source NHS GMS was added to CACNA1C. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v2.529 | CACNA1C | Eleanor Williams changed review comment from: Comment on list classification: Promoting this gene from red to amber, but there are sufficient cases to promote to green. This gene has been proposed for inclusion on this panel through the NHS Test directory application group and therefore is not tagged for GMS review but will be promoted in the next cycle of updates.; to: Comment on list classification: Promoting this gene from red to amber, but there are sufficient cases to promote to green. This gene has been proposed for inclusion on this panel through the NHS Test directory application route and therefore is not tagged for GMS review but will be promoted in the next cycle of updates. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.529 | CACNA1C | Eleanor Williams Classified gene: CACNA1C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.529 | CACNA1C | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber, but there are sufficient cases to promote to green. This gene has been proposed for inclusion on this panel through the NHS Test directory application group and therefore is not tagged for GMS review but will be promoted in the next cycle of updates. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.529 | CACNA1C | Eleanor Williams Gene: cacna1c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.528 | CACNA1C | Eleanor Williams Phenotypes for gene: CACNA1C were changed from to Timothy syndrome OMIM:601005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.527 | CACNA1C | Eleanor Williams Publications for gene: CACNA1C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.526 | CACNA1C | Eleanor Williams reviewed gene: CACNA1C: Rating: ; Mode of pathogenicity: None; Publications: 15454078, 15863612, 28371864; Phenotypes: Timothy syndrome OMIM:601005; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.525 | CACNA1C |
Eleanor Williams gene: CACNA1C was added gene: CACNA1C was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Early onset or syndromic epilepsy v1.73 | ASAH1 | Rebecca Foulger commented on gene: ASAH1: PMID:24164096: In a girl who presented with absence and atonic seizures age 10, Dyment et al. (2014) identified compound heterozygous mutations in the ASAH1 gene: c.850G>T (G284X) and c.456A>C. Each parent was found to carry one of the variants. Although c.456A>C is predicted to encode a Lys152Asn substitution, it is 2bp away from a splice donor site and fibroblast assays showed an absence of exon 6, suggesting abberant splicing. Note that the patient harboured several hundred rare variants with at least two rare non-synonymous variants within the coding sequence of 4 genes (ASAH1, OC90, CACNA1C and LAMA5) though CACNA1C and OC90 were ruled out because the variants were found to be inherited from a single parent. Unlike the cases from PMID:22703880, this patient presented with seizures as the first symptom, and displayed no significant muscle weakness. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||