TMEM94

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• intellectual developmental disorder with cardiac defects and dysmorphic facies

  0.74

• hereditary disease

  0.50

• congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

  0.47

• rare syndromic intellectual disability

  0.43

• Abnormality of the nervous system

  0.27

• post-traumatic stress disorder

  0.16

• prostate cancer

  0.11

• Familial prostate cancer

  0.11

• Seckel syndrome

  0.06

• hypertrophic cardiomyopathy

  0.05

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

Protein function (UniProt)