Cytopenias and congenital anaemias
Gene: PALB2EnsemblGeneIds (GRCh38): ENSG00000083093
EnsemblGeneIds (GRCh37): ENSG00000083093
OMIM: 610355, Gene2Phenotype
PALB2 is in 26 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient evidenceCreated: 28 Feb 2017, 1:50 p.m.
Biallelic mutations reported in 7 families (3 with inferred homozygosity in the deceased probands in view of parental heterozygous truncating mutations) in PMID 17200671. The presentation does not seem to be classically with anaemia or bone marrow failure but more of the congenital malformations and early malignancy risk that is associated with Fanconi Anaemia. Considered appropriate for inclusion however.Created: 22 Feb 2017, 4:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group N 610832
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Fanconi anemia, complementation group N 610832
- OMIM
- 610355
- Clinvar variants
- Variants in PALB2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Familial breast cancer
- Inherited breast cancer and ovarian cancer
- Inherited prostate cancer
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Cytopenias and congenital anaemias
- 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
- Intellectual disability
- Confirmed Fanconi anaemia or Bloom syndrome
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
- DDG2P
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for PALB2 were set to Fanconi anemia, complementation group N 610832
Set publications
Helen Brittain (Genomics England Curator)Publications for PALB2 were set to 17200672; 17200671
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Louise Daugherty (Genomics England Curator)PALB2 was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)PALB2 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert list