JAG2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital muscular dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

Disease associations (Open Targets)

• muscular dystrophy, limb-girdle, autosomal recessive 27

  0.78

• cancer

  0.57

• muscular dystrophy

  0.37

• orofacial cleft 1

  0.35

• Abnormal nasolacrimal system morphology

  0.28

• clonal hematopoiesis

  0.28

• spinal stenosis

  0.22

• autosomal recessive limb-girdle muscular dystrophy

  0.19

• neoplasm

  0.10

• breast cancer

  0.09

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

Protein function (UniProt)