ATR

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

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

• Cerebral vascular malformations

  BIALLELIC, autosomal or pseudoautosomal

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

• Sarcoma susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Vascular skin disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• Seckel syndrome 1

  0.74

• familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome

  0.67

• Seckel syndrome

  0.67

• microcephalic primordial dwarfism

  0.51

• hereditary disease

  0.47

• neurodegenerative disease

  0.46

• non-small cell lung carcinoma

  0.42

• lung carcinoma

  0.39

• prostate carcinoma

  0.38

• skin squamous cell carcinoma

  0.37

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

Protein function (UniProt)

Diseases associated with ATR

Curated MONDO disease pages that list ATR among their top associated genes.

• carcinoma of liver and intrahepatic biliary tractRare
• ovarian endometrioid adenocarcinoma with squamous differentiationRare
• bile duct carcinomaRare
• skin squamous cell carcinomaRare