FKRP

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Cerebellar hypoplasia

  BIALLELIC, autosomal or pseudoautosomal

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• Congenital muscular dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

+13 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• autosomal recessive limb-girdle muscular dystrophy type 2I

  0.83

• muscular dystrophy-dystroglycanopathy type B5

  0.81

• muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

  0.80

• muscular dystrophy-dystroglycanopathy, type A

  0.73

• myopathy caused by variation in FKRP

  0.58

• muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15

  0.57

• Abnormality of the cardiovascular system

  0.56

• autosomal recessive limb-girdle muscular dystrophy

  0.54

• muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

  0.54

• neurodegenerative disease

  0.49

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

Protein function (UniProt)