Congenital anaemias
Gene: PALB2EnsemblGeneIds (GRCh38): ENSG00000083093
EnsemblGeneIds (GRCh37): ENSG00000083093
OMIM: 610355, Gene2Phenotype
PALB2 is in 26 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Fanconi Anemia
- Fanconi anemia, complementation group N, 610832{Breast cancer, susceptibility to}, 114480{Pancreatic cancer, susceptibility to, 3}, 613348
- OMIM
- 610355
- Clinvar variants
- Variants in PALB2
- Penetrance
- Complete
- 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
- 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
- Intellectual disability
- Inherited pancreatic cancer
- Confirmed Fanconi anaemia or Bloom syndrome
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PALB2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)PALB2 was added to Congenital anaemiaspanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PALB2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)PALB2 was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PALB2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)PALB2 was added to Congenital anaemiaspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()PALB2 was added to Congenital anaemiaspanel. Sources: UKGTN
Added New Source
GEL ()PALB2 was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()PALB2 was added to Congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services