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Limb disorders

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

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Helen Brittain: Biallelic mutations reported i

16 Oct 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Sarah Leigh (Genomics England Curator)

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

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PALB2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PALB2 was created by Ellen McDonagh