MAP2K2

mitogen-activated protein kinase kinase 2
OMIM: 601263, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green MAP2K2 in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cardiofaciocutaneous syndrome
Green MAP2K2 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes Cardiofaciocutaneous syndrome 4 Cardio-Facio-Cutaneous syndrome type 4 Cardiofaciocutaneous Syndrome Cardio-Facio-Cutaneous syndrome CFC syndrome
Amber MAP2K2 in Childhood solid tumours Level 2: Cancer susceptibility Version 5.9 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Expert List Phenotypes Cardiofaciocutaneous syndrome 4 615280
Green MAP2K2 in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes CARDIOFACIOCUTANEOUS SYNDROME 4, 615280
Red MAP2K2 in Hypertrophic cardiomyopathy Level 2: Cardiology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	Unknown	Sources South West GLH Expert list Phenotypes syndromic HCM
Green MAP2K2 in Childhood solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.30	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Cardiofaciocutaneous syndrome
Amber MAP2K2 in Adult solid tumours cancer susceptibility Level 2: Cancer susceptibility Version 2.35 Latest signed off version: v2.2 (18 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes Cardiofaciocutaneous syndrome 4 615280
Green MAP2K2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes CARDIOFACIOCUTANEOUS SYNDROME
Green MAP2K2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CARDIOFACIOCUTANEOUS SYNDROME 115150
Red MAP2K2 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Cardiomyopathy
Green MAP2K2 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.123 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 4, 615280
Green MAP2K2 in Intellectual disability Level 2: Developmental disorders Version 9.281 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cardiofaciocutaneous syndrome 4, 615280 CARDIOFACIOCUTANEOUS SYNDROME (CFC SYNDROME)
Green MAP2K2 in RASopathies Level 3: RASopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.87	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing UKGTN Emory Genetics Laboratory Phenotypes Cardiofaciocutaneous syndrome 4 615280
Green MAP2K2 in Primary lymphoedema Level 2: Cardiology Version 4.21 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Cardiofaciocutaneous syndrome 4 615280
Green MAP2K2 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert List South West GLH London South GLH Expert Review Green Phenotypes Cardio-Facio-Cutaneous syndrome type 4 CFC syndrome Cardiofaciocutaneous syndrome 4 615280 Cardiofaciocutaneous syndrome 4 syndromic HCM Cardiofaciocutaneous Syndrome Cardio-Facio-Cutaneous syndrome
Red MAP2K2 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy
Green MAP2K2 in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Cardiofaciocutaneous syndrome 4, OMIM:615280