PALB2

partner and localizer of BRCA2
OMIM: 610355, Gene2Phenotype

28 panels

Panel Reviews Mode of inheritance Details
28 panels
Green PALB2 in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.20

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
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
Red PALB2 in Familial prostate cancer


Version 1.3

review Unknown
Sources
  • Literature
Green PALB2 in ClinGen Gene Validity Curations


Version 0.64

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Hereditary breast cancer
  • OrphaNet ORPHA227535
  • OMIM114480
Green PALB2 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.23

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Fanconi anemia, complementation group N, 610832
Green PALB2 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.16

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Curated sources
  • Expert Review Green
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 PALB2 in Breast cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.8
Latest signed off version: v2.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Breast cancer
Red PALB2 in Familial Tumours Syndromes of the central & peripheral Nervous system

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.14

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Brain, CNS, and PNS Cancer
Green PALB2 in Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.32

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group N, 610832
  • {Breast cancer, susceptibility to}, 114480
  • {Pancreatic cancer, susceptibility to, 3}, 613348
  • Fanconi Anemia
  • Fanconi Anaemia
Green PALB2 in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.40

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • breast, pancreas
Green PALB2 in COVID-19 research


Level 2: Viral research
Version 1.141

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group N, 610832
Green PALB2 in Inherited ovarian cancer (without breast cancer)

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 4.3
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
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 PALB2 in Childhood solid tumours

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.15
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fanconi Anaemia
  • Fanconi anemia, complementation group N, 610832
  • {Pancreatic cancer, susceptibility to, 3}, 613348
  • Fanconi Anemia
  • {Breast cancer, susceptibility to}, 114480
Green PALB2 in Limb disorders


Version 4.16
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anemia, complementation group N, 610832
    • Radial Ray abnormality
    Green PALB2 in Inherited pancreatic cancer


    Version 2.3
    Latest signed off version: v2.0 (30 Nov 2022)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert List
    Phenotypes
    • {Pancreatic cancer, susceptibility to, 3}, OMIM:613348
    • Pancreatic cancer, susceptibility to, 3, MONDO:0013236
    Green PALB2 in Inherited breast cancer and ovarian cancer


    Version 2.11
    Latest signed off version: v2.5 (12 Apr 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • {Breast cancer, susceptibility to}, OMIM:114480
    Green PALB2 in Pigmentary skin disorders


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Fanconi Anaemia
    • FANCN
    • FANCONI ANEMIA, COMPLEMENTATION GROUP N
    Green PALB2 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Fanconi anemia, complementation group N 610832
    Green PALB2 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.26

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fanconi Anemia
    Green PALB2 in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.29
    Latest signed off version: v2.2 (18 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    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 PALB2 in Haematological malignancies cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 4.4
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Curated sources
    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
    Amber PALB2 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.64
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Other
    Phenotypes
    • Fanconi anemia, complementation group N, 610832 (microcephaly)
    Green PALB2 in Confirmed Fanconi anaemia or Bloom syndrome


    Version 2.4
    Latest signed off version: v2.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • Fanconi anemia, complementation group N, 610832
    • 610832 Fanconi anemia, complementation group N
    Green PALB2 in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FANCONI ANEMIA, COMPLEMENTATION GROUP N
    Green PALB2 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FANCONI ANEMIA, COMPLEMENTATION GROUP N 610832
    Green PALB2 in Growth failure in early childhood


    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Fanconi anemia, complementation group N, 610832
    • 610832 Fanconi anemia, complementation group N
    Red PALB2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.478
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Fanconi anemia, complementation group N, 610832
    • {Breast cancer, susceptibility to}, 114480
    • {Pancreatic cancer, susceptibility to, 3}, 613348
    Green PALB2 in Severe Paediatric Disorders


    Version 1.182

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fanconi anemia, complementation group N, 610832
    Green PALB2 in Inherited prostate cancer


    Version 1.4
    Latest signed off version: v1.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green