Genomics England
GMS Panels
Panels
Genes and Entities

PALB2

partner and localizer of BRCA2
OMIM: 610355
PanelMode of inheritanceDetails
14 panels
Green
in Adult solid tumours cancer susceptibility
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
breast, pancreas
Green
in Breast cancer pertinent cancer susceptibility
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Breast cancer
Green
in Childhood solid tumours
R-numbers: R359
Signed-off version 4.0
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
Green
in Confirmed Fanconi anaemia or Bloom syndrome
R-numbers: R229, R258
Signed-off version 2.5
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 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP N 610832
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP N
Green
in Haematological malignancies cancer susceptibility
Signed-off version 4.0
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
Green
in Inherited breast cancer and ovarian cancer
R-numbers: R208
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Breast cancer, susceptibility to}, OMIM:114480
Green
in Inherited ovarian cancer (without breast cancer)
R-numbers: R207
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fanconi anemia, complementation group N, 610832, {Breast cancer, susceptibility to}, 114480, {Pancreatic cancer, susceptibility to, 3}, 613348, High Risk Breast Cancer, Breast and Ovarian Cancer
Green
in Inherited pancreatic cancer
R-numbers: R367
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Pancreatic cancer, susceptibility to, 3}, OMIM:613348, Pancreatic cancer, susceptibility to, 3, MONDO:0013236
Green
in Inherited prostate cancer
R-numbers: R430
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group N, 610832, Radial Ray abnormality
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group N, OMIM:610832
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi Anaemia, FANCN, FANCONI ANEMIA, COMPLEMENTATION GROUP N