This Panel is marked as Retired
Multiple Tumours
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)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Fanconi Anemia (N) (biallelic mutations)
- Myeloid hematological malignancy (leukemia, myelodysplastic syndrome) (biallelic mutations)
- Medulloblastoma (biallelic mutations)
- Neuroblastoma (biallelic mutations)
- Wilms tumor (biallelic mutations)
- Breast cancer (monoallelic mutations)
- Pancreatic cancer (monoallelic mutations)
- Familial breast cancer
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 610355
- Clinvar variants
- Variants in PALB2
- Penetrance
- Complete
- Panels with this gene
-
- 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
- Intellectual disability
- 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
- Confirmed Fanconi anaemia or Bloom syndrome
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- DDG2P
History Filter Activity
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PALB2 was added to Multiple Tumourspanel. Source: Expert Review Green
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PALB2 was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PALB2 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)