MFSD8

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Lysosomal storage disorder

  BIALLELIC, autosomal or pseudoautosomal

• Neuronal ceroid lipofuscinosis

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• neuronal ceroid lipofuscinosis 7

  0.83

• CLN7 disease

  0.79

• macular dystrophy with central cone involvement

  0.74

• late infantile neuronal ceroid lipofuscinosis

  0.71

• neuronal ceroid lipofuscinosis

  0.65

• hereditary disease

  0.53

• Retinal dystrophy

  0.52

• age-related macular degeneration

  0.48

• infantile neuronal ceroid lipofuscinosis

  0.46

• Cone rod dystrophy

  0.45

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

Protein function (UniProt)