GDF1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Familial non syndromic congenital heart disease

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Laterality disorders and isomerism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Paediatric disorders - additional genes

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Clefting

  Unknown

• Primary ciliary disorders

• Rare multisystem ciliopathy disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• congenital heart defects, multiple types, 6

  0.77

• right atrial isomerism

  0.77

• Tetralogy of Fallot

  0.68

• Ivemark syndrome

  0.62

• conotruncal heart malformations

  0.60

• Congenitally uncorrected transposition of the great arteries

  0.55

• double outlet right ventricle

  0.55

• Progressive myoclonic epilepsy

  0.49

• congenital heart defects, multiple types

  0.45

• Heterotaxia

  0.39

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

Protein function (UniProt)