This Panel is marked as Internal
ClinGen Gene Validity Curations
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
1 review
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 11:51 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- ClinGen
- Phenotypes
-
- Hereditary breast cancer
- OrphaNet ORPHA227535
- OMIM114480
- OMIM
- 610355
- Clinvar variants
- Variants in PALB2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Familial breast cancer
- Haematological malignancies cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Monogenic short stature
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
- Neurofibromatosis Type 1
- Breast cancer pertinent cancer susceptibility
- Limb disorders
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Intellectual disability
- Familial prostate cancer
- Inherited breast cancer and ovarian cancer
- Adult solid tumours cancer susceptibility
- Severe microcephaly
- Pigmentary skin disorders
- Inherited prostate cancer
- Childhood solid tumours
- Inherited pancreatic cancer
- Confirmed Fanconi anaemia or Bloom syndrome
History Filter Activity
22 Jun 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PALB2 was added to ClinGen Gene Validity Curationspanel. Source: Expert Review Green
20 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PALB2 was created by ellenmcdonagh
20 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PALB2 was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen