ECEL1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Congenital myopathy

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• distal arthrogryposis type 5D

  0.81

• hereditary disease

  0.45

• distal arthrogryposis

  0.41

• arthrogryposis

  0.27

• urolithiasis

  0.26

• arthrogryposis multiplex congenita

  0.15

• Congenital pulmonary alveolar proteinosis

  0.08

• Neonatal acute respiratory distress with surfactant metabolism deficiency

  0.08

• autoimmune pulmonary alveolar proteinosis

  0.07

• cleft larynx, posterior

  0.07

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

Protein function (UniProt)