ATRIP

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Breast cancer pertinent cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Familial breast cancer

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• IUGR and IGF abnormalities

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic short stature

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Aicardi-Goutieres syndrome 1

  0.57

• retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

  0.57

• chilblain lupus 1

  0.57

• systemic lupus erythematosus

  0.53

• Seckel syndrome

  0.46

• microcephalic primordial dwarfism

  0.46

• chilblain lupus

  0.42

• hereditary disease

  0.41

• Aicardi-Goutieres syndrome

  0.34

• neurodegenerative disease

  0.32

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

Protein function (UniProt)