ASNS

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

  0.81

• Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

  0.81

• hereditary disease

  0.47

• Neurodevelopmental delay

  0.43

• Abnormal cerebral morphology

  0.35

• Neurodevelopmental abnormality

  0.29

• cholelithiasis

  0.28

• spinocerebellar ataxia, autosomal recessive 29

  0.27

• multiple sclerosis

  0.22

• colorectal carcinoma

  0.10

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