BAP1

BRCA1 associated protein 1
OMIM: 603089, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green BAP1 in Melanoma 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
  • Malignant Melanoma

Green BAP1 in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.25

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Melanocytic Tumor syndrome, Familial Uveal Melanoma

Green BAP1 in Familial melanoma


Version 1.10
Latest signed off version: v1.2 (4 Mar 2020)

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

Green BAP1 in Inherited renal cancer


Version 1.21
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, OMIM:614327
  • BAP1-related tumor predisposition syndrome, MONDO:0013692
  • Renal cell carcinoma (disease), MONDO:0005086
  • Clear cell renal carcinoma, MONDO:0005005

Green BAP1 in Pigmentary skin disorders


Version 1.16
Latest signed off version: v1.4 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • TPDS
  • Melanoma susceptility
  • TUMOR PREDISPOSITION SYNDROME

Green BAP1 in Adult solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.14
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
  • Melanocytic Tumor syndrome, Familial Uveal Melanoma