This Panel is marked as Internal
Anaemias and red cell disorders
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- UKGTN
- Phenotypes
-
- Fanconi Anemia
- Fanconi anemia, complementation group N, 610832{Breast cancer, susceptibility to}, 114480{Pancreatic cancer, susceptibility to, 3}, 613348
- Fanconi anemia
- Fanconi anemia, complementation group N, 610832
- {Breast cancer, susceptibility to}, 114480
- {Pancreatic cancer, susceptibility to, 3}, 613348
- Fanconi Anaemia
- OMIM
- 610355
- Clinvar variants
- Variants in PALB2
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Familial breast cancer
- Inherited breast cancer and ovarian cancer
- Cytopenias and congenital anaemias
- Inherited prostate cancer
- Limb disorders
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Inherited pancreatic cancer
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Breast cancer pertinent cancer susceptibility
- Familial prostate cancer
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
- Severe microcephaly
History Filter Activity
22 Jul 2016, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)PALB2 was added to Anaemias and red cell disorderspanel. Source: Expert list
22 Jul 2016, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)PALB2 was added to Anaemias and red cell disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PALB2 was created by ellenmcdonagh