Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Dilated and arrhythmogenic cardiomyopathy v0.59 FKTN Ivone Leong Publications for gene: FKTN were set to
Dilated and arrhythmogenic cardiomyopathy v0.52 FKTN Ivone Leong reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.50 FKTN James Eden reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: None; Publications: 19015585, 17036286, 27521547; Phenotypes: Cardiomyopathy, dilated, 1X 611615, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800, Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated and arrhythmogenic cardiomyopathy v0.12 FKTN Ellen McDonagh Classified gene: FKTN as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.12 FKTN Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.12 FKTN Ellen McDonagh Gene: fktn has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.0 FKTN Ellen McDonagh gene: FKTN was added
gene: FKTN was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Wessex and West Midlands GLH,Radboud University Medical Center, Nijmegen,South West GLH
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Dilated Cardiomyopathy, Recessive; Cardiomyopathy, dilated, 1X