Childhood solid tumours cancer susceptibility
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
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Feedback from Clare Turnbull: only biallelic variants should be reported back for childhood panel.Created: 20 Jul 2017, 2:59 p.m.
Clare Turnbull (Queen Mary University London)
Tumour suppressor. Report biallelic only.Created: 5 Jul 2017, 11:28 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Fanconi Anemia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Fanconi Anemia
- 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
7 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumour suppressor. Report bial
20 Jul 2017, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PALB2 was changed to BIALLELIC, autosomal or pseudoautosomal
5 Jul 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PALB2 was added to Childhood solid tumourspanel. Source: Expert Review Green
5 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PALB2 was created by ellenmcdonagh
5 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PALB2 was added to Childhood solid tumourspanel. Sources: Expert list