1. Genes and Genomic Entities
  2. BAP1

BAP1

BRCA1 associated protein 1
OMIM: 603089, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green BAP1 in Melanoma pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Tumor predisposition syndrome 1, OMIM:614327
  • {Uveal melanoma, susceptibility to, 2}, OMIM:606661
Green BAP1 in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.42

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Tumor predisposition syndrome 1, OMIM:614327
  • {Uveal melanoma, susceptibility to, 2}, OMIM:606661
Green BAP1 in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Tumor predisposition syndrome 1, OMIM:614327
  • {Uveal melanoma, susceptibility to, 2}, OMIM:606661
Green BAP1 in Familial melanoma


Level 2: Inherited cancer
Version 2.5
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
  • Tumor predisposition syndrome 1, OMIM:614327
  • {Uveal melanoma, susceptibility to, 2}, OMIM:606661
Green BAP1 in Inherited renal cancer


Level 2: Inherited cancer
Version 1.28
Latest signed off version: v1.2 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert List
  • UKGTN
Phenotypes
  • Tumor predisposition syndrome 1, OMIM:614327
  • {Uveal melanoma, susceptibility to, 2}, OMIM:606661
Green BAP1 in Pigmentary skin disorders


Level 2: Dermatology
Version 4.13
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Tumor predisposition syndrome 1, OMIM:614327
  • {Uveal melanoma, susceptibility to, 2}, OMIM:606661
Green BAP1 in Adult solid tumours cancer susceptibility


Level 2: Cancer susceptibility
Version 2.35
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
  • Tumor predisposition syndrome 1, OMIM:614327
  • {Uveal melanoma, susceptibility to, 2}, OMIM:606661
Green BAP1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BAP1-associated neurodevelopmental syndrome
    Green BAP1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Kury-Isidor syndrome, OMIM:619762
    Green BAP1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Kury-Isidor syndrome, OMIM:619762
    Green BAP1 in BAP1 associated tumour predisposition syndrome


    Level 2: Inherited cancer
    Version 1.3
    Latest signed off version: v1.0 (14 Sep 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Tumor predisposition syndrome, OMIM:614327
    • BAP1-related tumor predisposition syndrome, MONDO:0013692