NKX6-2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset dystonia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

+6 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

  0.81

• Autosomal recessive spastic ataxia with leukoencephalopathy

  0.59

• hereditary disease

  0.19

• spermatocele

  0.16

• male reproductive organ cancer

  0.11

• genetic developmental and epileptic encephalopathy

  0.09

• placental retention

  0.09

• schizophrenia

  0.08

• undetermined early-onset epileptic encephalopathy

  0.08

• developmental and/or epileptic encephalopathy with spike-wave activation in sleep

  0.08

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

Protein function (UniProt)