DMXL2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Diabetes with additional phenotypes suggestive of a monogenic aetiology

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• genetic developmental and epileptic encephalopathy

  0.66

• autosomal dominant nonsyndromic hearing loss

  0.56

• polyendocrine-polyneuropathy syndrome

  0.51

• deafness

  0.47

• early-infantile DEE

  0.46

• sensorineural hearing loss disorder

  0.42

• hearing loss, autosomal recessive

  0.42

• autism spectrum disorder

  0.39

• intelligence

  0.30

• cardiac transplant

  0.26

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

Protein function (UniProt)