PALB2: CanVIG-UK Gene-Specific Guidance

CanVIG-UK review of PALB2: Consensus to use relevant recommendations from the ClinGen Hereditary Breast,Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PALB2 Version 1.2.0 (available at: https://clinicalgenome.org/affiliation/50039/) for PALB2 variants reported under indication R208 of the UK Genomic Test Directory.Additional points of specification are given below where applicable

Institutions

Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-10-07
DOI
https://doi.org/10.5281/zenodo.15021551
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

PALB2: CanVIG-UK Gene-Specific Guidance

Zenodo (CERN European Organization for Nuclear Research)
Genomics and Rare Diseases
article

PALB2: CanVIG-UK Gene-Specific Guidance

article en

Abstract

CanVIG-UK review of PALB2: Consensus to use relevant recommendations from the ClinGen Hereditary Breast,Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PALB2 Version 1.2.0 (available at: https://clinicalgenome.org/affiliation/50039/) for PALB2 variants reported under indication R208 of the UK Genomic Test Directory.Additional points of specification are given below where applicable

Zenodo (CERN European Organization for Nuclear Research)
Cardiff and Vale University Health Board (GB), Royal Marsden NHS Foundation Trust (GB), Nottingham University Hospitals NHS Trust (GB), Institute of Cancer Research (GB), University of Exeter (GB), Leeds Teaching Hospitals NHS Trust (GB), Royal Devon & Exeter NHS Foundation Trust (GB), Western General Hospital (GB), NHS Greater Glasgow and Clyde (GB), St George’s University Hospitals NHS Foundation Trust (GB), University Hospital Southampton NHS Foundation Trust (GB), University of Manchester (GB), Children's Health Ireland at Crumlin (IE), Sheffield Children's NHS Foundation Trust (GB), Genomics England (GB), Birmingham Women’s and Children’s NHS Foundation Trust (GB), Queen Elizabeth University Hospital (GB)
Openalex Percentile: Top 41%
Genomics and Rare Diseases
DOIOpen Access PDFOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.