RNF125

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hydrocephalus

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• Tenorio syndrome

  0.73

• Intellectual disability

  0.37

• Chronic Obstructive Asthma

  0.26

• hereditary disease

  0.19

• hypertrophic cardiomyopathy

  0.12

• neoplasm

  0.10

• hepatocellular carcinoma

  0.09

• asthma

  0.08

• melanoma

  0.08

• maple syrup urine disease

  0.07

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

Protein function (UniProt)