BRIP1

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

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green BRIP1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group J, MIM# 609054
    Tags
    • treatable

    Green BRIP1 in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.21

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anemia, complementation group J, MIM# 609054
    Tags
    • treatable

    Green BRIP1 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group J, MIM# 609054
    Tags
    • treatable

    Green BRIP1 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.301

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Fanconi anemia, complementation group J (MIM#609054)
    Tags
    • treatable

    Green BRIP1 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.131

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green BRIP1 in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.15

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group J, MIM# 609054
    Tags
    • treatable

    Amber BRIP1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Fanconi anaemia, complementation group J, MIM# 609054

    Green BRIP1 in Growth failure


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group J, MIM# 609054

    Green BRIP1 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anemia, complementation group J, MIM# 609054

    No list BRIP1 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Fanconi Anaemia

    Green BRIP1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Fanconi anaemia, complementation group J, MIM# 609054
    Tags
    • treatable
    • haematological

    Green BRIP1 in Ovarian Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Ovarian cancer, MONDO:0008170