Familial melanoma
Gene: BRCA2
BRCA2 (BRCA2, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 36 panels
EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 36 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.Created: 31 Jul 2019, 12:55 p.m. | Last Modified: 31 Jul 2019, 12:55 p.m.
Panel Version: 0.23
Lara Hawkes (Genomics England)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- NHS GMS
- OMIM
- 600185
- Clinvar variants
- Variants in BRCA2
- Penetrance
- None
- Panels with this gene
-
- Radial dysplasia
- Intellectual disability
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Limb disorders
- Inherited prostate cancer
- Primary immunodeficiency or monogenic inflammatory bowel disease
- NICE approved PARP inhibitor treatment
- Haematological malignancies cancer susceptibility
- Inherited pancreatic cancer
- Pigmentary skin disorders
- COVID-19 research
- Haematological malignancies for rare disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Familial melanoma
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Cytopenias and congenital anaemias
- DDG2P
- Prostate cancer pertinent cancer susceptibility
- Monogenic short stature
- Neurofibromatosis Type 1
- Adult solid tumours for rare disease
- Additional findings health related - CNV analysis adult specific
- GI tract tumours
- Breast cancer pertinent cancer susceptibility
- Sarcoma susceptibility
- Familial prostate cancer
- Additional findings health related - adult specific
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Severe microcephaly
History Filter Activity
30 Jan 2019, Gel status: 2
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: BRCA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Jan 2019, Gel status: 2
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: brca2 has been classified as Amber List (Moderate Evidence).
30 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: BRCA2 was added gene: BRCA2 was added to Familial melanoma. Sources: NHS GMS Mode of inheritance for gene: BRCA2 was set to