Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Dilated Cardiomyopathy and conduction defects v1.55 | FHL1 | Rebecca Whittington commented on gene: FHL1: ?Uruguay faciocardiomusculoskeletal syndrome OMIM#300280; Emery-Dreifuss muscular dystrophy 6, X-linked OMIM# 300696; Myopathy, X-linked, with postural muscle atrophy OMIM#300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset OMIM#300717; Reducing body myopathy, X-linked 1b, with late childhood or adult onset OMIM#300718; Scapuloperoneal myopathy, X-linked dominant OMIM#300695. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.54 | FHL1 | Rebecca Whittington commented on gene: FHL1: Core HCM gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.53 | FHL1 | Rebecca Whittington reviewed gene: FHL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.47 | FHL1 |
Ellen McDonagh Source South West GLH was added to FHL1. Mode of inheritance for gene FHL1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |