Genomics England
GMS Panels
Panels
Genes and Entities

BAP1

BRCA1 associated protein 1
OMIM: 603089
PanelMode of inheritanceDetails
8 panels
Green
in Adult solid tumours cancer susceptibility
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Melanocytic Tumor syndrome, Familial Uveal Melanoma
Green
in BAP1 associated tumour predisposition syndrome
R-numbers: R422
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BAP1-associated neurodevelopmental syndrome
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Kury-Isidor syndrome, OMIM:619762
Green
in Familial melanoma
R-numbers: R254
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Green
in Inherited renal cancer
R-numbers: R224
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Malignant mesothelioma after asbestos exposure, Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, usually clear cell type
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Kury-Isidor syndrome, OMIM:619762
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
TPDS, Melanoma susceptility, TUMOR PREDISPOSITION SYNDROME