PALB2

partner and localizer of BRCA2
OMIM: 610355
PanelMode of inheritanceDetails
10 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
breast, pancreas
R-numbers: R229, R258
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group N, 610832, 610832 Fanconi anemia, complementation group N
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP N 610832
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP N
R-numbers: R147
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group N, 610832, 610832 Fanconi anemia, complementation group N
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: BM failure FA, (typ AR), Fanconi anemia, MDS, AML, Bone marrow failure, Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar
R-numbers: R367
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group N, 610832, Radial Ray abnormality
R-numbers: R236
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi Anaemia, FANCN, FANCONI ANEMIA, COMPLEMENTATION GROUP N
R-numbers: R359
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi Anaemia, Fanconi anemia, complementation group N, 610832, {Pancreatic cancer, susceptibility to, 3}, 613348, Fanconi Anemia, {Breast cancer, susceptibility to}, 114480