FAM50A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Intellectual disability

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Early onset or syndromic epilepsy

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

• Armfield syndrome

  0.74

• complex neurodevelopmental disorder

  0.37

• hereditary disease

  0.33

• Intellectual disability

  0.27

• neurodegenerative disease

  0.20

• breast carcinoma

  0.17

• hepatocellular carcinoma

  0.09

• neoplasm

  0.09

• colorectal carcinoma

  0.08

• breast cancer

  0.08

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

Protein function (UniProt)