Cytopenias and congenital anaemias
Gene: PALB2
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
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
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
This gene has been classified as Green List (High Evidence).
PALB2 was created by LouiseD
PALB2 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert list