PALB2

PALB2

partner and localizer of BRCA2

HCNC Approved Symbol: PALB2 (HGNC:26144)
Genomic Coordinates: 16:23,603,165 - 23,641,310 (16p12.2)
Synonyms: FLJ21816, FANCN
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

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Diagnosed Cases

23Patients

In total, 23 patients were diagnosed with a variant in the PALB2 gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

023
Patient count

Breast carcinoma: 9 (39.1%)
Patient Count: 9 (39.1%)
% of total patients presenting each phenotype is shown in parentheses.
9 (39.1%)
Seizures: 4 (17.4%)
Patient Count: 4 (17.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (17.4%)
Intellectual disability: 4 (17.4%)
Patient Count: 4 (17.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (17.4%)
Epilepsy: 3 (13.0%)
Patient Count: 3 (13.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (13.0%)
Short stature: 3 (13.0%)
Patient Count: 3 (13.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (13.0%)

Last updated: 2024-06-30