BRIP1

BRCA1 interacting protein C-terminal helicase 1
OMIM: 605882, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels
Red BRIP1 in Familial breast cancer

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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Breast cancer, early-onset, susceptibility to}, OMIM:114480
Red BRIP1 in Familial prostate cancer


Version 1.3

review Unknown
Sources
  • Literature
Green BRIP1 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

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 J, OMIM:609054
Green BRIP1 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.17

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Curated sources
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group J, OMIM:609054
Green BRIP1 in Head and neck cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Head and neck cancer
Green BRIP1 in Ovarian cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.3
Latest signed off version: v2.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • familial ovarian cancer, MONDO:0016248
Green BRIP1 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
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group J, OMIM:609054
Green BRIP1 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 list
  • Expert Review Green
Phenotypes
  • {Breast cancer, early-onset, susceptibility to}, OMIM:114480
Green BRIP1 in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group J, OMIM:609054
Green BRIP1 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, imprinted status unknown
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • familial ovarian cancer, MONDO:0016248
Green BRIP1 in Childhood solid tumours

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
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 anemia, complementation group J, OMIM:609054
Green BRIP1 in Limb disorders


Version 4.21
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 J, OMIM:609054
    • Radial ray abnormality
    Green BRIP1 in Pigmentary skin disorders


    Version 3.12
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Fanconi anemia, complementation group J, OMIM:609054
    Green BRIP1 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.118

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • UKGTN
    Phenotypes
    • Fanconi anemia, complementation group J, OMIM:609054
    Green BRIP1 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.27

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fanconi anemia, complementation group J, OMIM:609054
    Green BRIP1 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
    • {Breast cancer, early-onset, susceptibility to}, OMIM:114480
    Green BRIP1 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
    • Fanconi anemia, complementation group J, OMIM:609054
    Green BRIP1 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.82
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    Phenotypes
    • Fanconi anemia, complementation group J, OMIM:609054
    Green BRIP1 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 J, OMIM:609054
    Green BRIP1 in Fetal anomalies


    Version 3.164
    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 J, OMIM:609054
    Green BRIP1 in DDG2P


    Version 3.88
    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 J 609054
    Green BRIP1 in Growth failure in early childhood


    Version 3.94
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Fanconi anemia, complementation group J, OMIM:609054
    Red BRIP1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    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
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Fanconi anemia, complementation group J, OMIM:609054
    Green BRIP1 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fanconi anemia, complementation group J, 609054