GREB1L

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• CAKUT

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Monogenic hearing loss

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Paediatric disorders - additional genes

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• renal hypodysplasia/aplasia 3

  0.81

• hearing loss, autosomal dominant 80

  0.74

• renal agenesis

  0.70

• Mayer-Rokitansky-Kuster-Hauser syndrome type 1

  0.52

• neurodegenerative disease

  0.52

• Mayer-Rokitansky-Kuster-Hauser syndrome

  0.49

• Mayer-Rokitansky-Küster-Hauser syndrome type 2

  0.47

• bilateral renal agenesis

  0.38

• renal agenesis, unilateral

  0.37

• Unilateral renal agenesis

  0.37

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

Protein function (UniProt)