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Early onset or syndromic epilepsy v4.163 CACNB4 Helen Lord edited their review of gene: CACNB4: Added comment: PMID 35813387 - Naseer et al, 2022: WES i one family and targeted sequencing of SCN1A and CACNB4 in 25 sporadic epilepsy patients. 3 different unrelated patients found to have the c.78_79insG variant in CACNB4. Do mention that tecently het CACNB4 mutations are not linked with epilepsy [Heyne et al 2019] and that het mutated animal model did not show any tyoe of deformities [Coba et al, 2012].

Also PMID32176688 - see previous occurence where identifed homozygously.; Changed rating: AMBER; Changed publications to: 35813387
Early onset or syndromic epilepsy v4.146 CACNB4 Achchuthan Shanmugasundram Tag Q4_23_expert_review tag was added to gene: CACNB4.
Early onset or syndromic epilepsy v4.133 CACNB4 Sarah Leigh Tag refuted tag was added to gene: CACNB4.
Early onset or syndromic epilepsy v4.133 CACNB4 Sarah Leigh Tag Q4_23_demote_red tag was added to gene: CACNB4.
Early onset or syndromic epilepsy v4.133 CACNB4 Sarah Leigh edited their review of gene: CACNB4: Added comment: The gene disease association between CACNB4 and epilepsy has been refuted by ClinGen Epilepsy Gene Curation Expert Panel on July 5, 2022 (SOP Version 9)(https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d2fad131-8e91-4874-9394-8b86d6d62abb-2022-07-05T160000.000Z?page=1&size=25&search= ); Changed rating: RED
Early onset or syndromic epilepsy v4.87 CACNB4 Zornitza Stark reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Epilepsy, juvenile myoclonic, susceptibility to, 6}, MIM# 607682, {Epilepsy, idiopathic generalized, susceptibility to, 9}, MIM#607682; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v2.518 CACNB4 Helen Lord edited their review of gene: CACNB4: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v2.491 CACNB4 Sarah Leigh Tag for-review was removed from gene: CACNB4.
Early onset or syndromic epilepsy v2.491 CACNB4 Sarah Leigh commented on gene: CACNB4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.490 CACNB4 Sarah Leigh Source Expert Review Green was added to CACNB4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.278 CACNB4 Sarah Leigh Phenotypes for gene: CACNB4 were changed from {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682; Episodic ataxia, type 5, 613855; Intellectual disability to {Epilepsy, idiopathic generalized, susceptibility to, 9} OMIM:607682; {Epilepsy, juvenile myoclonic, susceptibility to, 6} OMIM:607682; Episodic ataxia, type 5 OMIM:613855; Intellectual disability
Early onset or syndromic epilepsy v2.274 CACNB4 Helen Lord reviewed gene: CACNB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32176688; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v2.107 CACNB4 Sarah Leigh edited their review of gene: CACNB4: Added comment: There is enough evidence for this gene to be rated GREEN for epilepsy at the next major review.; Changed rating: GREEN
Early onset or syndromic epilepsy v2.107 CACNB4 Sarah Leigh Tag for-review tag was added to gene: CACNB4.
Early onset or syndromic epilepsy v2.107 CACNB4 Sarah Leigh Publications for gene: CACNB4 were set to 20561025; 20378313; 10762541; 32176688 25529582
Early onset or syndromic epilepsy v2.106 CACNB4 Sarah Leigh Phenotypes for gene: CACNB4 were changed from to {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682; Episodic ataxia, type 5, 613855; Intellectual disability
Early onset or syndromic epilepsy v2.105 CACNB4 Sarah Leigh Publications for gene: CACNB4 were set to
Early onset or syndromic epilepsy v2.104 CACNB4 Sarah Leigh Mode of inheritance for gene: CACNB4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v2.103 CACNB4 Sarah Leigh Classified gene: CACNB4 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v2.103 CACNB4 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 3 variants reported in at least 3 unrelated cases, together with supportive functional data.
Early onset or syndromic epilepsy v2.103 CACNB4 Sarah Leigh Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.191 CACNB4 Rebecca Foulger Source Wessex and West Midlands GLH was added to CACNB4.
Early onset or syndromic epilepsy v1.190 CACNB4 Rebecca Foulger Source NHS GMS was added to CACNB4.
Early onset or syndromic epilepsy v1.189 CACNB4 Rebecca Foulger reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 CACNB4 Tracy Lester reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: 10762541; Phenotypes: {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682, {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682, Episodic ataxia, type 5, 613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.13 CACNB4 Deb Pal reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: None; Publications: 20561025, 20378313, 10762541; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy CACNB4 Sarah Leigh Added gene to panel