Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
Gene: BRCA2

BRCA2 (BRCA2, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 36 panels

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Details

Sources

Expert list

Phenotypes

Fanconi anemia

OMIM

600185

Clinvar variants

Variants in BRCA2

Penetrance

Complete

Panels with this gene

Radial dysplasia
Limb disorders
Familial breast cancer
Ovarian cancer pertinent cancer susceptibility
Adult solid tumours cancer susceptibility
Haematological malignancies cancer susceptibility
Confirmed Fanconi anaemia or Bloom syndrome
Primary immunodeficiency or monogenic inflammatory bowel disease
Inherited pancreatic cancer
Breast cancer pertinent cancer susceptibility
Haematological malignancies for rare disease
Intellectual disability
Pigmentary skin disorders
Childhood solid tumours cancer susceptibility
Inherited breast cancer and ovarian cancer
Inherited ovarian cancer (without breast cancer)
Monogenic short stature
Severe microcephaly
Cytopenias and congenital anaemias
COVID-19 research
Prostate cancer pertinent cancer susceptibility
Inherited prostate cancer
Neurofibromatosis Type 1
Adult solid tumours for rare disease
Additional findings health related - CNV analysis adult specific
GI tract tumours
Sarcoma susceptibility
Familial prostate cancer
Additional findings health related - adult specific
NICE approved PARP inhibitor treatment
DDG2P
Familial melanoma
Childhood solid tumours
Fetal anomalies
Inherited non-medullary thyroid cancer
Additional findings health related

History Filter Activity

19 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BRCA2 was created by ellenmcdonagh