OPHN1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Cerebellar hypoplasia

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• DDG2P

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Early onset or syndromic epilepsy

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Hereditary ataxia

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Hereditary ataxia with onset in adulthood

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

+3 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• X-linked intellectual disability-cerebellar hypoplasia syndrome

  0.81

• X-linked intellectual disability - cerebellar hypoplasia

  0.74

• hereditary disease

  0.49

• Seizure

  0.40

• alopecia

  0.30

• Nystagmus

  0.27

• Hypoplasia of the corpus callosum

  0.27

• oligohydramnios

  0.27

• Abnormality of the nervous system

  0.27

• Delayed gross motor development

  0.27

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

Protein function (UniProt)