Genomics England

BRAF

B-Raf proto-oncogene, serine/threonine kinase

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes LEOPARD SYNDROME TYPE 3 613707, NOONAN SYNDROME TYPE 7 613706, CARDIOFACIOCUTANEOUS SYNDROME 115150
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 Cardiofaciocutaneous syndrome 115150, Noonan syndrome 7 613706, LEOPARD syndrome 3 613707
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes CARDIOFACIOCUTANEOUS SYNDROME, LEOPARD SYNDROME TYPE 3, NOONAN SYNDROME TYPE 7
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, NOT imprinted	Phenotypes Melanoma, malignant, somaticColorectal cancer, somaticAdenocarcinoma of lung, somatic, 211980Nonsmall cell lung cancer, somaticCardiofaciocutaneous syndrome, 115150Noonan syndrome 7, 613706LEOPARD syndrome 3, 613707, NOONAN SYNDROME TYPE 7 (NS7)
Green in Monogenic short stature R-numbers: R453 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cardiofaciocutaneous syndrome, OMIM:115150, LEOPARD syndrome 3, OMIM:613707, Noonan syndrome 7, OMIM:613706
Green in Mosaic skin disorders - deep sequencing R-numbers: R327 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Melanocytic naevus syndrome, OMIM:137550, Vascular malformations, Noonan syndrome 7 (MIM 613706), LEOPARD syndrome 3 , OMIM:613707, Cardio-facio-cutaneous syndrome 1, OMIM:115150
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cardio-facio-cutaneous syndrome, Syringocystadenoma papilliferum, Melanocytic naevi, LPRD3, CARDIOFACIOCUTANEOUS SYNDROME 1, CFC1, LEOPARD SYNDROME 3
Green in Pituitary hormone deficiency R-numbers: R159 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cardiofaciocutaneous syndrome, OMIM:115150, cardiofaciocutaneous syndrome, MONDO:0015280
Green in Primary lymphoedema R-numbers: R136 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes LEOPARD syndrome 3 613707, Noonan syndrome 7 613706, Cardiofaciocutaneous syndrome 115150
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes cardiofaciocutaneous syndrome type 115150, Noonan syndrome type 7 613706