Genomics England

BAP1

BRCA1 associated protein 1

Panel	Mode of inheritance	Details
Filter panels9 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 1.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Tumor predisposition syndrome, OMIM:614327, BAP1-related tumor predisposition syndrome, MONDO:0013692
Green in Childhood solid tumours Signed-off version 5.11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Tumor predisposition syndrome 1, OMIM:614327, {Uveal melanoma, susceptibility to, 2}, OMIM:606661
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	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 Signed-off version 9.56	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Kury-Isidor syndrome, OMIM:619762
Green in Familial melanoma R-numbers: R254 Signed-off version 2.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Tumor predisposition syndrome 1, OMIM:614327, {Uveal melanoma, susceptibility to, 2}, OMIM:606661
Green in Inherited renal cancer R-numbers: R224 Signed-off version 1.30	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Tumor predisposition syndrome 1, OMIM:614327, {Uveal melanoma, susceptibility to, 2}, OMIM:606661
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Kury-Isidor syndrome, OMIM:619762
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 5.12	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Tumor predisposition syndrome 1, OMIM:614327, {Uveal melanoma, susceptibility to, 2}, OMIM:606661