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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)