MAP3K7

mitogen-activated protein kinase kinase kinase 7
OMIM: 602614, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green MAP3K7 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Cardiospondylocarpofacial syndrome (CSCF) MIM# 157800 Frontometaphyseal dysplasia 2 (FMD2) MIM# 617137
Green MAP3K7 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiospondylocarpofacial syndrome 157800 AD Frontometaphyseal dysplasia 2 617137 AD
Green MAP3K7 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Frontometaphyseal dysplasia 2, 617137
Green MAP3K7 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes AD-FMD Frontometaphyseal dysplasia 2, 617137 autosomal dominant FMD FMD2
Green MAP3K7 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cardiospondylocarpofacial syndrome, OMIM:157800 Frontometaphyseal dysplasia 2, MONDO:0014935 Frontometaphyseal dysplasia 2, OMIM:617137 Cardiospondylocarpofacial syndrome, MONDO:0008005