Genomics England

MAP2K1

mitogen-activated protein kinase kinase 1

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes 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 6.9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cardiofaciocutaneous syndrome 3, 615279
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes CARDIOFACIOCUTANEOUS SYNDROME
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cardiofaciocutaneous syndrome 3, 615279, CARDIOFACIOCUTANEOUS SYNDROME (CFC SYNDROME)
Green in Monogenic short stature R-numbers: R453 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cardiofaciocutaneous syndrome 3, OMIM:615279
Green in Mosaic skin disorders - deep sequencing R-numbers: R327 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cardio-facio-cutaneous syndrome
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 5.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes CFC syndrome, ?Noonan syndrome, syndromic HCM, LEOPARD syndrome, Cardiofaciocutaneous syndrome 3, Cardiofaciocutaneous Syndrome, Cardio-Facio-Cutaneous syndrome
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cardiofaciocutaneous Syndrome, CFC syndrome, LEOPARD syndrome, CFC3, Cardio-Facio-Cutaneous syndrome, ?Noonan syndrome, Cardiofaciocutaneous syndrome 3, CARDIOFACIOCUTANEOUS SYNDROME 3
Green in Primary lymphoedema R-numbers: R136 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cardiofaciocutaneous syndrome 3 615279