FRA10AC1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities

  0.76

• neurodevelopmental disorder

  0.37

• DNA methylation

  0.26

• hereditary disease

  0.19

• respiratory system disorder

  0.02

• myelodysplastic syndrome

  0.00

• type 1 diabetes mellitus

  0.00

• glioma susceptibility 1

  0.00

• diffuse large B-cell lymphoma

  0.00

• gastric cancer

  0.00

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

Protein function (UniProt)