BAP1

BRCA1 associated protein 1
OMIM: 603089, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green BAP1 in Melanoma pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.2	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 1.40	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
Amber BAP1 in Childhood solid tumours Level 3: Childhood Tumours Level 2: Tumour syndromes Version 4.18 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes Tumor predisposition syndrome 1, OMIM:614327 {Uveal melanoma, susceptibility to, 2}, OMIM:606661 Tags Q4_23_promote_green Q4_23_NHS_review
Green BAP1 in Familial melanoma Version 2.4 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 Version 1.27 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 Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	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 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 2.29 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 3.88 Latest signed off version: v3.1 (22 Mar 2023) 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 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) 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 Version 1.1 Latest signed off version: v1.0 (14 Sep 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green