FTL

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Bilateral congenital or childhood onset cataracts

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset dystonia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Iron metabolism disorders - NOT common HFE mutations

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• hereditary hyperferritinemia with congenital cataracts

  0.79

• neuroferritinopathy

  0.78

• L-ferritin deficiency

  0.53

• hereditary disease

  0.41

• movement disorder

  0.37

• Genetic hyperferritinemia without iron overload

  0.37

• essential tremor

  0.11

• hepatocellular carcinoma

  0.10

• cancer

  0.10

• neoplasm

  0.10

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

Protein function (UniProt)