SPTBN4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital myopathy

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodevelopmental disorder with hypotonia, neuropathy, and deafness

  0.78

• hereditary disease

  0.51

• neurodegenerative disease

  0.36

• deafness

  0.12

• essential tremor

  0.12

• hearing loss, autosomal recessive

  0.11

• autosomal dominant nonsyndromic hearing loss

  0.11

• Benign familial chorea

  0.11

• Global developmental delay

  0.11

• myoclonic epilepsy

  0.11

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