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Early onset or syndromic epilepsy v1.331 | CLCN6 | Rebecca Foulger Source Wessex and West Midlands GLH was added to CLCN6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.330 | CLCN6 | Rebecca Foulger Source NHS GMS was added to CLCN6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.302 | CLCN6 | Rebecca Foulger Classified gene: CLCN6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.302 | CLCN6 | Rebecca Foulger Added comment: Comment on list classification: Changed rating from Amber to Red based on post-Webex reviews from Helen Lord and Alison Callaway: the current published association between CLCN6 and seizures is weak. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.302 | CLCN6 | Rebecca Foulger Gene: clcn6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.262 | CLCN6 | Rebecca Foulger reviewed gene: CLCN6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.261 | CLCN6 | Helen Lord reviewed gene: CLCN6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.256 | CLCN6 | Alison Callaway reviewed gene: CLCN6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.142 | CLCN6 |
Sarah Leigh Added comment: Comment on publications: PMID 29667327 - one case with seizures, no other work up PMID 26658788 - reference to rare traits and BP control PMID 25794116 - three families with variants and a history of seizures. However one person with a reported phenotype of seizures was variant negative and the functional work does not look compelling |
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Early onset or syndromic epilepsy v1.142 | CLCN6 | Sarah Leigh Publications for gene: CLCN6 were set to 29667327; 26658788; 25794116 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.141 | CLCN6 | Sarah Leigh Classified gene: CLCN6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.141 | CLCN6 | Sarah Leigh Gene: clcn6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.140 | CLCN6 |
Sarah Leigh gene: CLCN6 was added gene: CLCN6 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: CLCN6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCN6 were set to 29667327; 26658788; 25794116 Review for gene: CLCN6 was set to AMBER Added comment: Sources: Literature |