Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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11 actions
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| Hypertrophic cardiomyopathy v1.81 | FHL1 | Ivone Leong reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.61 | FHL1 | Ivone Leong Publications for gene: FHL1 were set to 27532257; 28369730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.53 | FHL1 | Rebecca Whittington commented on gene: FHL1: Myopathy, X-linked, with postural muscle atrophy; Emery-Dreifuss muscular dystrophy 6, X-linked (300696) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.52 | FHL1 | Rebecca Whittington commented on gene: FHL1: HCM phenocopy - well established gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.51 | FHL1 | Rebecca Whittington reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.50 | FHL1 | Matthew Edwards reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346, 20186852, 22523091, 29926425; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.45 | FHL1 | Ellen McDonagh Source South West GLH was added to FHL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.44 | FHL1 | Ellen McDonagh reviewed gene: FHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.43 | FHL1 | Ellen McDonagh Source London South GLH was added to FHL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.42 | FHL1 | James Eden reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: ?Uruguay faciocardiomusculoskeletal syndrome (300280), Emery-Dreifuss muscular dystrophy 6, X-linked (300696), Myopathy, X-linked, with postural muscle atrophy (300696), Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717), Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718), Scapuloperoneal myopathy, X-linked dominant (300695); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.41 | FHL1 |
Ellen McDonagh Source North West GLH was added to FHL1. Added phenotypes Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718); ?Uruguay faciocardiomusculoskeletal syndrome (300280); Scapuloperoneal myopathy, X-linked dominant (300695); Myopathy, X-linked, with postural muscle atrophy (300696); Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717); Emery-Dreifuss muscular dystrophy 6, X-linked (300696) for gene: FHL1 Publications for gene FHL1 were changed from http://www.ncbi.nlm.nih.gov/pubmed/22523091 to 27532257; 28369730 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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