TMEM240

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Ataxia and cerebellar anomalies - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary ataxia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary ataxia with onset in adulthood

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• spinocerebellar ataxia type 21

  0.80

• neurodevelopmental disorder

  0.34

• hereditary disease

  0.19

• acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

  0.12

• breast cancer

  0.08

• breast carcinoma

  0.08

• colorectal carcinoma

  0.08

• cancer

  0.05

• neoplasm

  0.05

• spinal muscular atrophy, type IV

  0.03

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