SYT2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital myaesthenic syndrome

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Arthrogryposis

• Paediatric motor neuronopathies

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• Congenital myasthenic syndromes

  0.75

• myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive

  0.66

• botulism

  0.50

• Presynaptic congenital myasthenic syndromes

  0.37

• presynaptic congenital myasthenic syndrome

  0.37

• benign thyroid gland neoplasm

  0.30

• congenital myasthenic syndrome

  0.26

• Respiratory distress

  0.26

• Muscle weakness

  0.26

• Chronic Obstructive Asthma

  0.25

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

Protein function (UniProt)