Inherited breast cancer and ovarian cancer
Gene: PALB2EnsemblGeneIds (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
- Phenotypes
-
- {Breast cancer, susceptibility to}, OMIM:114480
- OMIM
- 610355
- Clinvar variants
- Variants in PALB2
- Penetrance
- None
- Panels with this gene
-
- Inherited ovarian cancer (without breast cancer)
- DDG2P
- Limb disorders
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Familial breast cancer
- Inherited breast cancer and ovarian cancer
- Cytopenias and congenital anaemias
- Inherited prostate cancer
- Familial Tumours Syndromes of the central & peripheral Nervous system
- COVID-19 research
- Inherited pancreatic cancer
- Pigmentary skin disorders
- Monogenic short stature
- Severe microcephaly
- Neurofibromatosis Type 1
- Childhood solid tumours
- Breast cancer pertinent cancer susceptibility
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Intellectual disability
- Familial prostate cancer
- Confirmed Fanconi anaemia or Bloom syndrome
- Adult solid tumours cancer susceptibility
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PALB2 were changed from Fanconi anemia, complementation group N, 610832; High Risk Breast Cancer; {Pancreatic cancer, susceptibility to, 3}, 613348; Breast and Ovarian Cancer; {Breast cancer, susceptibility to}, 114480 to {Breast cancer, susceptibility to}, OMIM:114480
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PALB2 was added gene: PALB2 was added to Inherited breast cancer and ovarian cancer. Sources: Expert Review Green Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PALB2 were set to Fanconi anemia, complementation group N, 610832; High Risk Breast Cancer; {Pancreatic cancer, susceptibility to, 3}, 613348; Breast and Ovarian Cancer; {Breast cancer, susceptibility to}, 114480