TAB2

TGF-beta activated kinase 1/MAP3K7 binding protein 2
OMIM: 605101, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green TAB2 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.239	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Green TAB2 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.474	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Green TAB2 in Mendeliome Version 1.3499	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like Congenital heart defects, nonsyndromic, 2 (MIM#614980) Tags SV/CNV
Green TAB2 in Rasopathy Level 2: Dysmorphic and congenital abnormality syndromes Version 0.108	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Green TAB2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.398	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital heart defects, multiple types, 2 MONDO:0014000
Green TAB2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Green TAB2 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.207	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS Phenotypes Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Red TAB2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Congenital heart disease, nonsyndromic
Green TAB2 in Fetal anomalies Version 1.465	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Red TAB2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease, nonsyndromic