Limb disordersGene: 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 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
Fanconi anemia, complementation group N 610832
Helen Brittain: Biallelic mutations reported i
Source Expert Review Green was added to PALB2. Mode of inheritance for gene PALB2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group N, 610832 for gene: PALB2 Publications for gene PALB2 were changed from to 17200671; 17200672
PALB2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
PALB2 was created by Ellen McDonagh