MEGF8

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Limb disorders

  BIALLELIC, autosomal or pseudoautosomal

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Carpenter syndrome

  0.78

• polydactyly

  0.44

• RAB23-related Carpenter syndrome

  0.38

• craniosynostosis

  0.27

• liver disorder

  0.23

• temporomandibular joint disorder

  0.23

• hereditary disease

  0.20

• Abnormality of the skeletal system

  0.13

• Heterotaxia

  0.09

• right atrial isomerism

  0.08

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

Protein function (UniProt)