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Early onset or syndromic epilepsy v4.133 CLCN2 Sarah Leigh commented on gene: CLCN2: The association between CLCN2 and epilepsy has been refuted by ClinGen Epilepsy Expert Panel on the meeting date March 15, 2022 (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba2a1616-b3d7-4762-a546-c838333db683-2022-03-15T040000.000Z)
Early onset or syndromic epilepsy v2.448 CLCN2 Arina Puzriakova Phenotypes for gene: CLCN2 were changed from Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 to {Epilepsy, juvenile myoclonic, susceptibility to, 8}, OMIM:607628; {Epilepsy, juvenile absence, susceptibility to, 2}, OMIM:607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, OMIM:607628
Early onset or syndromic epilepsy v2.447 CLCN2 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI has been changed from 'Both mono- and biallelic' to 'Monoallelic' only. Seizures have been linked with monoallelic variants (MIM# 607628) although there is debate regarding this gene-disease relationship, hence the current Red rating on this panel. Autosomal recessive pathogenic variants are also associated with Leukoencephalopathy (MIM# 615651) which does not include epilepsy.
Early onset or syndromic epilepsy v2.447 CLCN2 Arina Puzriakova Mode of inheritance for gene: CLCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.191 CLCN2 Rebecca Foulger Source Wessex and West Midlands GLH was added to CLCN2.
Early onset or syndromic epilepsy v1.190 CLCN2 Rebecca Foulger Source NHS GMS was added to CLCN2.
Early onset or syndromic epilepsy v1.189 CLCN2 Rebecca Foulger reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 CLCN2 Tracy Lester reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628, {Epilepsy, juvenile absence, susceptibility to, 2}, 607628, {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628, Hyperaldosteronism, familial, type II, 605635, Leukoencephalopathy with ataxia, 615651; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.476 CLCN2 Sarah Leigh Marked gene: CLCN2 as ready
Early onset or syndromic epilepsy v0.476 CLCN2 Sarah Leigh Gene: clcn2 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy CLCN2 Sarah Leigh edited their review of CLCN2
Early onset or syndromic epilepsy CLCN2 Sarah Leigh Added gene to panel