FLVCR1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Posterior column ataxia - retinitis pigmentosa

  0.79

• posterior column ataxia-retinitis pigmentosa syndrome

  0.78

• neurodevelopmental disorder with microcephaly, absent speech, and hypotonia

  0.70

• retinitis pigmentosa

  0.51

• hereditary disease

  0.50

• Retinal dystrophy

  0.47

• neurodegenerative disease

  0.42

• FLVCR1-related retinopathy with or without ataxia

  0.37

• hereditary sensory and autonomic neuropathy

  0.27

• Jeune syndrome

  0.26

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

Protein function (UniProt)