AHCY

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Fetal hydrops

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency

  0.78

• hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

  0.73

• neurodegenerative disease

  0.55

• hereditary disease

  0.48

• lysosomal storage disease

  0.42

• hydrops fetalis

  0.38

• obesity and hypopigmentation

  0.33

• rhabdomyolysis

  0.32

• retinal disorder

  0.24

• retinoschisis

  0.24

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

Protein function (UniProt)