IBMDx study
Gene: PALB2
PALB2 (partner and localizer of BRCA2)
EnsemblGeneIds (GRCh38): ENSG00000083093
EnsemblGeneIds (GRCh37): ENSG00000083093
OMIM: 610355, Gene2Phenotype
PALB2 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000083093
EnsemblGeneIds (GRCh37): ENSG00000083093
OMIM: 610355, Gene2Phenotype
PALB2 is in 18 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Established gene-disease association.Created: 23 Apr 2021, 6:54 a.m. | Last Modified: 23 Apr 2021, 6:54 a.m.
Panel Version: 0.136
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anaemia, complementation group N, MIM# 610832
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- IBMDx Study
- Expert Review Green
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Phenotypes
-
- Fanconi anaemia, complementation group N, MIM# 610832
- OMIM
- 610355
- Clinvar variants
- Variants in PALB2
- Penetrance
- None
- Panels with this gene
-
- Chromosome Breakage Disorders
- 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
- Additional findings_Adult
- IBMDx study
- Wilms Tumour
- Growth failure
History Filter Activity
10 Dec 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PALB2 was added gene: PALB2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: PALB2 was set to Unknown Phenotypes for gene: PALB2 were set to Fanconi anaemia, complementation group N, MIM# 610832