FHL1

four and a half LIM domains 1
OMIM: 300163
PanelMode of inheritanceDetails
6 panels
R-numbers: R135
Signed-off version 1.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R79
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
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
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED 300696
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.21
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R131
Signed-off version 2.11
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718), Myopathy, X-linked, with postural muscle atrophy (300696), ?Uruguay faciocardiomusculoskeletal syndrome (300280), Scapuloperoneal myopathy, X-linked dominant (300695), Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717), Emery-Dreifuss muscular dystrophy 6, X-linked (300696)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Emery-Dreifuss muscular dystrophy