HEPACAM

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

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

• White matter disorders and cerebral calcification - narrow panel

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• megalencephalic leukoencephalopathy with subcortical cysts

  0.82

• megalencephalic leukoencephalopathy with subcortical cysts 2A

  0.72

• macrocephaly-autism syndrome

  0.37

• autism spectrum disorder

  0.27

• hereditary disease

  0.19

• Intellectual disability

  0.15

• posterior cortical atrophy

  0.09

• myeloid sarcoma

  0.08

• glioblastoma

  0.07

• hepatocellular carcinoma

  0.07

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

Protein function (UniProt)