PALB2

partner and localizer of BRCA2
OMIM: 610355, Gene2Phenotype

26 panels

Panel Reviews Mode of inheritance Details
26 panels

Green PALB2 in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.13

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 1.1

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 1.12

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 1.1

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 1.0

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 1.9

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 1.26

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 1.22

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 1.70

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group N, 610832

Red PALB2 in Inherited ovarian cancer (without breast cancer)

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 2.5
Signed off v.2.2 on 4 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • 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

Green PALB2 in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.14
Signed off v.2.5 on 4 Mar 2020

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 2.18
Signed off v.2.2 on 13 Feb 2020

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 1.4
    Signed off v.1.2 on 4 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert List

    Green PALB2 in Pigmentary skin disorders


    Version 1.5
    Signed off v.1.4 on 15 Oct 2020

    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 1.78

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert list
    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 1.14

    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 2.6
    Signed off v.2.2 on 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 2.5
    Signed off v.2.2 on 18 Feb 2020

    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 2.47
    Signed off v.2.2 on 2 Mar 2020

    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 1.8
    Signed off v.1.7 on 15 Oct 2020

    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 1.115
    Signed off v.1.92 on 21 Aug 2020

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

    Green PALB2 in DDG2P


    Version 2.12
    Signed off v.2.2 on 13 Feb 2020

    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 1.16
    Signed off v.1.4 on 3 Mar 2020

    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

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.568
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review Amber
    • 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 1.20

    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