Radial dysplasia

Gene: PALB2

Green List (high evidence)

PALB2 (partner and localizer of BRCA2)
EnsemblGeneIds (GRCh38): ENSG00000083093
EnsemblGeneIds (GRCh37): ENSG00000083093
OMIM: 610355, Gene2Phenotype
PALB2 is in 25 panels

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: In biallelic form, causes FA. Often presents with congenital malformations and therefore radial dysplasia is a phenotypic feature.
Created: 11 May 2017, 9:57 a.m.
Comment when marking as ready: Sufficient evidence
Created: 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

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia

Publications

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

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

22 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for PALB2 were set to Fanconi anemia, complementation group N, 610832

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 3

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for PALB2 were set to Fanconi anemia, complementation group N 610832

11 May 2017, Gel status: 3

Set publications

Helen Brittain (Genomics England Curator)

Publications for PALB2 were set to 17200672; 17200671

6 Dec 2016, Gel status: 3

Upload gene information

Rebecca Foulger (Genomics England curator)

PALB2 was added to Radial dysplasiapanel. Sources: Expert list

18 Oct 2016, Gel status: 3

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

PALB2 was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene PALB2 was set to BIALLELIC, autosomal or pseudoautosomal

18 Oct 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

PALB2 was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen

18 Oct 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

PALB2 was added to Radial dysplasiapanel. Source: UKGTN

18 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

PALB2 was created by rfoulger

18 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

PALB2 was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing