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Dilated Cardiomyopathy and conduction defects v1.67 FLNC Arina Puzriakova Phenotypes for gene: FLNC were changed from to Cardiomyopathy, familial hypertrophic, 26, OMIM:617047; Cardiomyopathy, familial restrictive 5, OMIM:617047; Hypertrophic cardiomyopathy 26, MONDO:0014883; Myopathy, myofibrillar, 5, OMIM:609524; Myopathy, myofibrillar, 5, MONDO:0012289
Dilated Cardiomyopathy and conduction defects v1.55 FLNC Rebecca Whittington commented on gene: FLNC: Cardiomyopathy, familial hypertrophic, 26; Cardiomyopathy, familial restrictive 5 OMIM#617047; Myopathy, distal, 4 OMIM#614065; Myopathy, myofibrillar, 5 OMIM#609524
Dilated Cardiomyopathy and conduction defects v1.54 FLNC Rebecca Whittington commented on gene: FLNC: Literature: Begay 2016 2 Italian families with segregation of the same splice variant and a US family with a different splice variant segregating with disease. Western blotting supported evidence of pathogenicity.
Dilated Cardiomyopathy and conduction defects v1.53 FLNC Rebecca Whittington reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.47 FLNC Ellen McDonagh Source South West GLH was added to FLNC.
Mode of inheritance for gene FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.42 FLNC Ellen McDonagh Publications for gene: FLNC were set to
Dilated Cardiomyopathy and conduction defects v1.41 FLNC Ellen McDonagh Classified gene: FLNC as Amber List (moderate evidence)
Dilated Cardiomyopathy and conduction defects v1.41 FLNC Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to new review, to raise for discussion with the NHSE GMS Cardiology specialist group.
Dilated Cardiomyopathy and conduction defects v1.41 FLNC Ellen McDonagh Gene: flnc has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy and conduction defects v1.40 FLNC Oxford Medical Genetics Laboratory edited their review of gene: FLNC: Added comment: Originally given red rating. Now evidence from the literature and our cohort that truncating variants in this gene cause DCM.; Changed rating: GREEN; Changed publications: Publications supporting role of truncating variants in this gene in DCM PMID: 29551499 , PMID: 28008423; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Dilated Cardiomyopathy and conduction defects v1.39 FLNC Ellen McDonagh Source Wessex and West Midlands GLH was added to FLNC.