LEFTY2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Familial non syndromic congenital heart disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Primary ciliary disorders

• Rare multisystem ciliopathy disorders

• Skeletal dysplasia

• Thoracic dystrophies

Disease associations (Open Targets)

• left-right axis malformations

  0.48

• Heterotaxia

  0.21

• visceral heterotaxy

  0.20

• primary ciliary dyskinesia

  0.07

• heterotaxy, visceral, 12, autosomal

  0.07

• Congenitally uncorrected transposition of the great arteries

  0.07

• atrial septal defect

  0.07

• familial primary pulmonary hypoplasia

  0.07

• atrial septal defect 1

  0.06

• small cell lung carcinoma

  0.06

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

Protein function (UniProt)