SMPD4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Cerebellar hypoplasia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic diabetes

  BIALLELIC, autosomal or pseudoautosomal

• 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)

• neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies

  0.76

• neurodegenerative disease

  0.44

• hereditary disease

  0.42

• diabetes mellitus

  0.37

• type 1 diabetes mellitus

  0.37

• Abnormal cerebral morphology

  0.33

• microcephaly

  0.04

• hepatocellular carcinoma

  0.04

• urinary bladder cancer

  0.02

• urinary bladder carcinoma

  0.02

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

Protein function (UniProt)