FAM177A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodevelopmental disorder with white matter abnormalities and gait disturbance

  0.59

• complex neurodevelopmental disorder

  0.42

• Abnormality of the skeletal system

  0.39

• primary biliary cholangitis

  0.30

• Macrocephaly

  0.26

• Dolichocephaly

  0.26

• Intellectual disability

  0.26

• obesity disorder

  0.26

• depressive disorder

  0.24

• dermatitis

  0.20

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

Protein function (UniProt)