BAP1

BRCA1 associated protein 1
OMIM: 603089, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green BAP1 in Incidentalome


Version 0.314

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Tumor predisposition syndrome, MIM# 614327
Tags
  • cancer

Red BAP1 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Tumor predisposition syndrome, MIM# 614327

Green BAP1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Kury-Isidor syndrome , MIM#619762

    Green BAP1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Kury-Isidor syndrome , MIM#619762

    Green BAP1 in Melanoma


    Level 2: Cancer Predisposition
    Version 1.1

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • SA Pathology
    Phenotypes
    • Melanoma, MONDO:0005105
    • BAP1-related tumor predisposition syndrome, MONDO:0013692
    • BAP1-tumour predisposition syndrome, MIM#614327

    Green BAP1 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green BAP1 in Growth failure


    Version 1.76

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Kury-Isidor syndrome , MIM#619762

    Green BAP1 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • SA Pathology
    Phenotypes
    • Tumour predisposition syndrome, MIM#614327

    Green BAP1 in Meningioma


    Level 2: Cancer predisposition
    Version 1.1

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Meningioma, MONDO:0016642
    • BAP1-related tumor predisposition syndrome, MONDO:0013692
    • BAP1-tumour predisposition syndrome, MIM#614327

    Green BAP1 in Kidney Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Renal carcinoma, MONDO:0005206
    • BAP1-related tumor predisposition syndrome, MONDO:0013692
    • BAP1-tumour predisposition syndrome, MIM#614327