HIKESHI

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Optic neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• hypomyelinating leukodystrophy 13

  0.72

• Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism

  0.62

• hypothyroidism

  0.43

• hereditary disease

  0.36

• ocular hypotension

  0.25

• benign prostatic hyperplasia

  0.12

• smoking initiation

  0.10

• Congenital pulmonary alveolar proteinosis

  0.07

• Neonatal acute respiratory distress with surfactant metabolism deficiency

  0.06

• Hyperlipoproteinemia type 1

  0.06

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

Protein function (UniProt)