ESR1

Red ESR1 in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.20

Sources

• Radboud University Medical Center, Nijmegen

Phenotypes

• Estrogen resistance, 615363
• {HDL response to hormone replacement, augmented}
• {Migraine, susceptibility to}, 157300
• {Atherosclerosis, susceptibility to}
• {Myocardial infarction, susceptibility to}, 608446
• {Breast cancer}, 114480 (1)

Red ESR1 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3

Sources

• Literature

Red ESR1 in Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.30

Sources

• Radboud University Medical Center, Nijmegen

Phenotypes

• Estrogen resistance, 615363
• {HDL response to hormone replacement, augmented}
• {Migraine, susceptibility to}, 157300
• {Atherosclerosis, susceptibility to}
• {Myocardial infarction, susceptibility to}, 608446
• {Breast cancer}, 114480 (1)
• {HDL response to hormone replacement, augmented}
• {Migraine, susceptibility to}, 157300
• {Atherosclerosis, susceptibility to}
• {Myocardial infarction, susceptibility to}, 608446
• {Breast cancer}, 114480 (1)

Red ESR1 in Inherited ovarian cancer (without breast cancer)

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 4.3
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Radboud University Medical Center, Nijmegen

Phenotypes

• Estrogen resistance, 615363
• {HDL response to hormone replacement, augmented}
• {Migraine, susceptibility to}, 157300
• {Atherosclerosis, susceptibility to}
• {Myocardial infarction, susceptibility to}, 608446
• {Breast cancer}, 114480 (1)

Red ESR1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert
• Expert Review Red

Red ESR1 in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Red
• Expert