FHL1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital muscular dystrophy

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Distal myopathies

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Hypertrophic cardiomyopathy

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Paediatric or syndromic cardiomyopathy

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Arthrogryposis

• Congenital myopathy

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

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Disease associations (Open Targets)

• X-linked myopathy with postural muscle atrophy

  0.81

• myopathy, reducing body, X-linked, early-onset, severe

  0.65

• myopathy, reducing body, X-linked, childhood-onset

  0.64

• Emery-Dreifuss muscular dystrophy

  0.63

• myopathy

  0.60

• Uruguay Faciocardiomusculoskeletal syndrome

  0.58

• Abnormality of the cardiovascular system

  0.53

• X-linked Emery-Dreifuss muscular dystrophy

  0.47

• angina pectoris

  0.37

• reducing body myopathy

  0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)