Familial breast cancer
Gene: PALB2
PALB2 (partner and localizer of BRCA2)
EnsemblGeneIds (GRCh38): ENSG00000083093
EnsemblGeneIds (GRCh37): ENSG00000083093
OMIM: 610355, Gene2Phenotype
PALB2 is in 26 panels
EnsemblGeneIds (GRCh38): ENSG00000083093
EnsemblGeneIds (GRCh37): ENSG00000083093
OMIM: 610355, Gene2Phenotype
PALB2 is in 26 panels
4 reviews
Clare Turnbull (Queen Mary University London)
Paul Pharoah (University of Cambridge)
Treena Cranston (Oxford)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ellen Thomas (Genomics England Curator)
Comment on list classification: Two reviewers plus two original gene panels suggest Green; no suggestion of red status.Created: 29 Jan 2016, 2:26 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Fanconi anemia, complementation group N, 610832
- {Breast cancer, susceptibility to}, 114480
- {Pancreatic cancer, susceptibility to, 3}, 613348
- High Risk Breast Cancer
- Breast and Ovarian Cancer
- OMIM
- 610355
- Clinvar variants
- Variants in PALB2
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Familial breast cancer
- Inherited breast cancer and ovarian cancer
- Inherited prostate cancer
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Cytopenias and congenital anaemias
- Severe microcephaly
- COVID-19 research
- Limb disorders
- Inherited pancreatic cancer
- Monogenic short stature
- Neurofibromatosis Type 1
- Childhood solid tumours
- Breast cancer pertinent cancer susceptibility
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Familial prostate cancer
- Intellectual disability
- Confirmed Fanconi anaemia or Bloom syndrome
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
- DDG2P
History Filter Activity
29 Jan 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Jan 2016, Gel status: 4
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for PALB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Jan 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
27 Jul 2015, Gel status: 2
Added New Source
Eik Haraldsdottir (Genomics England)PALB2 was added to Familial breast cancerpanel. Sources: Emory Genetics Laboratory
27 Jul 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)PALB2 was added to Familial breast cancerpanel. Sources: Radboud University Medical Center, Nijmegen