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Newborns main panel

Gene: PALB2

Amber List (moderate evidence)
PALB2 (partner and localizer of BRCA2)
EnsemblGeneIds (GRCh38): ENSG00000083093
EnsemblGeneIds (GRCh37): ENSG00000083093
OMIM: 610355, Gene2Phenotype
PALB2 is in 26 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
Fanconi anemia complementation group N curation results by ClinGen activity (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PALB2. Added phenotypes Fanconi anemia, complementation group N for gene: PALB2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Fanconi anemia, complementation group N for gene: PALB2

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Fanconi anemia, complementation group N for gene: PALB2

9 May 2023, Gel status: 3

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

Gene: palb2 has been classified as Green List (High Evidence).

9 May 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Fanconi anemia, complementation group N for gene: PALB2

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to PALB2. Rating Changed from Green List (high evidence) to No List (delete)

27 Mar 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: PALB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Fanconi anemia, complementation group N for gene: PALB2

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: PALB2 was added gene: PALB2 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown