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| Severe Paediatric Disorders v0.17 | FHL1 | Louise Daugherty 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | FHL1 | Louise Daugherty reviewed gene: FHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | FHL1 | Louise Daugherty Publications for gene FHL1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | FHL1 | Louise Daugherty Added phenotypes ?Uruguay faciocardiomusculoskeletal syndrome, 300280; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Myopathy, X-linked, with postural muscle atrophy, 300696; Scapuloperoneal myopathy, X-linked dominant, 300695 for gene: FHL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | FHL1 | Louise Daugherty Added phenotypes ?Uruguay faciocardiomusculoskeletal syndrome, 300280; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Myopathy, X-linked, with postural muscle atrophy, 300696; Scapuloperoneal myopathy, X-linked dominant, 300695 for gene: FHL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | FHL1 | Louise Daugherty Added phenotypes ?Uruguay faciocardiomusculoskeletal syndrome, 300280; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Myopathy, X-linked, with postural muscle atrophy, 300696; Scapuloperoneal myopathy, X-linked dominant, 300695 for gene: FHL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | FHL1 | Louise Daugherty Added phenotypes Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718; Scapuloperoneal myopathy, X-linked dominant, 300695; ?Uruguay faciocardiomusculoskeletal syndrome, 300280; Myopathy, X-linked, with postural muscle atrophy, 300696 for gene: FHL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | FHL1 | Louise Daugherty Source Next Generation Children Project was added to FHL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | FHL1 |
Louise Daugherty Source Expert Review Green was added to FHL1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | FHL1 |
Louise Daugherty gene: FHL1 was added gene: FHL1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FHL1 was set to |
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