FHL1

four and a half LIM domains 1
OMIM: 300163, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green FHL1 in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.29
Latest signed off version: v1.21 (11 Nov 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718

    Green FHL1 in Neuromuscular disorders


    Version 5.164
    Latest signed off version: v5.43 (4 Mar 2020)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    Phenotypes
    • Emery-Dreifuss muscular dystrophy
    • Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718

    Green FHL1 in Hypertrophic cardiomyopathy - teen and adult

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.21
    Latest signed off version: v2.11 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • South West GLH
    • London South GLH
    • North West GLH
    • Expert Review Green
    • Expert list
    • UKGTN
    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)

    Red FHL1 in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.68

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • South West GLH
    • Oxford Medical Genetics Laboratory

    Green FHL1 in Congenital muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.8
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review
    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

    Red FHL1 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.98
    Latest signed off version: v3.2 (13 Feb 2020)

    review Not set
    Sources
    • Expert Review Red
    • Expert list

    Red FHL1 in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.28
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert Review
    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 FHL1 in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.18
    Latest signed off version: v2.4 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Emery-Dreifuss muscular dystrophy

    Red FHL1 in Fetal anomalies


    Version 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED

    Green FHL1 in DDG2P


    Version 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED 300696

    Red FHL1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1075
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Scapuloperoneal myopathy, X-linked dominant, 300695
    • Myopathy, X-linked, with postural muscle atrophy, 300696
    • Myopathy, reducing body, X-linked, severe early-onset, 300717
    • Myopathy, reducing body, X-linked, childhood-onset, 300718
    • Emery-Dreifuss muscular dystrophy 6, X-linked, 300696

    Green FHL1 in Cardiomyopathies - including childhood onset


    Version 1.39
    Latest signed off version: v1.4 (19 Feb 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Green

    Green FHL1 in Severe Paediatric Disorders


    Version 1.77

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Uruguay faciocardiomusculoskeletal syndrome, 300280
    • 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
    • Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
    • Scapuloperoneal myopathy, X-linked dominant, 300695