CRELD1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Familial non syndromic congenital heart disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Laterality disorders and isomerism

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Paediatric disorders - additional genes

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Primary ciliary disorders

+3 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Jeffries-Lakhani neurodevelopmental syndrome

  0.71

• hereditary disease

  0.49

• ventricular septal defect 1

  0.42

• congenital heart defects, multiple types, 4

  0.42

• neurodevelopmental disorder with hypotonia and seizures

  0.18

• congenital heart disease

  0.12

• Tetralogy of Fallot

  0.12

• familial atrioventricular septal defect

  0.05

• familial thoracic aortic aneurysm and aortic dissection

  0.03

• aortic aneurysm, familial thoracic 4

  0.03

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

Protein function (UniProt)