Radial dysplasia
Gene: PALB2
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 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
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for PALB2 were set to Fanconi anemia, complementation group N, 610832
This gene has been classified as Green List (High Evidence).
Phenotypes for PALB2 were set to Fanconi anemia, complementation group N 610832
Publications for PALB2 were set to 17200672; 17200671
PALB2 was added to Radial dysplasiapanel. Sources: Expert list
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
PALB2 was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
PALB2 was added to Radial dysplasiapanel. Source: UKGTN
PALB2 was created by rfoulger
PALB2 was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing