SMAD6

SMAD family member 6
OMIM: 602931, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber SMAD6 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Aortic valve disease 2 MIM# 614823
Green SMAD6 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SMAD6 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes {Craniosynostosis 7, susceptibility to}, MIM# 617439
Green SMAD6 in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Radioulnar synostosis, nonsyndromic} 179300 {Craniosynostosis 7, susceptibility to} 617439 Aortic valve disease 2 MIM# 614823
Green SMAD6 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes {Radioulnar synostosis, nonsyndromic} 179300
Red SMAD6 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Cardiovascular malformation, congenital
Green SMAD6 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Literature Phenotypes Aortic valve disease 2 - MIM#614823 {Craniosynostosis 7, susceptibility to} - MIM#617439 {Radioulnar synostosis, nonsyndromic} - #179300
Red SMAD6 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiovascular malformation, congenital