Neurofibromatosis Type 1
Gene: PALB2

PALB2 (partner and localizer of BRCA2)
EnsemblGeneIds (GRCh38): ENSG00000083093
EnsemblGeneIds (GRCh37): ENSG00000083093
OMIM: 610355, Gene2Phenotype
PALB2 is in 26 panels

4 reviews

Helen Lindsay (Leeds Genetics Laboratory)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:46 a.m.

Panel version: Imported from "Non-Fanconi anaemia" panel version 0

Mark Greenslade (Bristol Genetics Laboratory)

Green List (high evidence)

Created: 5 Nov 2017, 2:46 a.m.

Panel version: Imported from "Non-Fanconi anaemia" panel version 0

Alice Gardham (Genomics England)

Green List (high evidence)

Confirmed as DD gene on G2P
Created: 2 Nov 2016, 11:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anaemia, complementation group N, 610832

Publications

Created: 2 Nov 2016, 11:07 a.m.

Panel version: 0.15

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia complementation group N

Created: 26 Jan 2016, 1:44 p.m.

Panel version: Imported from "Non-Fanconi anaemia" panel version 0.228

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Fanconi anemia, complementation group N, 610832
{Breast cancer, susceptibility to}, 114480
{Pancreatic cancer, susceptibility to, 3}, 613348
Fanconi Anemia
Fanconi Anaemia

OMIM

610355

Clinvar variants

Variants in PALB2

Penetrance

Complete

Publications

Panels with this gene