Genomics England

MAP2K2

mitogen-activated protein kinase kinase 2

Panel	Mode of inheritance	Details
Filter panels8 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 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 4, 615280
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	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 8.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cardiofaciocutaneous syndrome 4, 615280, 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 4, OMIM:615280
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 6.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cardio-Facio-Cutaneous syndrome type 4, CFC syndrome, Cardiofaciocutaneous syndrome 4 615280, Cardiofaciocutaneous syndrome 4, syndromic HCM, 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 4, 615280
Green in Primary lymphoedema R-numbers: R136 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cardiofaciocutaneous syndrome 4 615280