Additional findings_Adult
Gene: PALB2EnsemblGeneIds (GRCh38): ENSG00000083093
EnsemblGeneIds (GRCh37): ENSG00000083093
OMIM: 610355, Gene2Phenotype
PALB2 is in 18 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Included in ACMG V3.0 as risk of breast cancer meets penetrance threshold.
Sources: Expert listCreated: 26 May 2021, 7:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Breast cancer, susceptibility to} 114480
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- {Breast cancer, susceptibility to} 114480
- OMIM
- 610355
- Clinvar variants
- Variants in PALB2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Chromosome Breakage Disorders
- Additional findings_Adult
- Prostate Cancer
- Breast Cancer
- Ovarian Cancer
- Incidentalome_PREGEN_DRAFT
- Pancreatic Cancer
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
- Cancer Predisposition_Paediatric
- Radial Ray Abnormalities
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- IBMDx study
- Wilms Tumour
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: palb2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: palb2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PALB2 was added gene: PALB2 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PALB2 were set to 34012068 Phenotypes for gene: PALB2 were set to {Breast cancer, susceptibility to} 114480 Review for gene: PALB2 was set to GREEN