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Arthrogryposis v0.132 | FHL1 | Zornitza Stark Marked gene: FHL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.132 | FHL1 | Zornitza Stark Gene: fhl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.132 | FHL1 | Zornitza Stark Phenotypes for gene: FHL1 were changed from to Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696; Myopathy, X-linked, with postural muscle atrophy, MIM# 300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, MIM# 300718; Scapuloperoneal myopathy, X-linked dominant, MIM# 300695 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.131 | FHL1 | Zornitza Stark Mode of inheritance for gene: FHL1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.130 | FHL1 | Zornitza Stark Classified gene: FHL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.130 | FHL1 | Zornitza Stark Gene: fhl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.129 | FHL1 | Zornitza Stark reviewed gene: FHL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696, Myopathy, X-linked, with postural muscle atrophy, MIM# 300696, Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717, Reducing body myopathy, X-linked 1b, with late childhood or adult onset, MIM# 300718, Scapuloperoneal myopathy, X-linked dominant, MIM# 300695; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.0 | FHL1 |
Zornitza Stark gene: FHL1 was added gene: FHL1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FHL1 was set to Unknown |