CNNM2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Renal tubulopathies

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• familial primary hypomagnesemia with normocalciuria and normocalcemia

  0.75

• Autosomal dominant primary hypomagnesemia with hypocalciuria

  0.53

• hypomagnesemia, seizures, and intellectual disability

  0.50

• hereditary spastic paraplegia 45

  0.45

• Autosomal recessive spastic paraplegia type 48

  0.45

• hypertensive disorder

  0.41

• Hypomagnesemia

  0.34

• atrial fibrillation

  0.31

• schizophrenia

  0.29

• Abnormality of the skeletal system

  0.28

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

Protein function (UniProt)