SMAD2:Ensemblv90

SMAD family member 2
OMIM: 601366, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green SMAD2 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.101	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Loeys-Dietz syndrome 6, MIM# 619656
Green SMAD2 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.511	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Loeys-Dietz syndrome 6, MIM# 619656 Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657
Green SMAD2 in Mendeliome Version 1.3802	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 6, MIM# 619656 Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657
Red SMAD2 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Loeys-Dietz syndrome
Green SMAD2 in Fetal anomalies Version 1.482	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Loeys-Dietz syndrome 6, MIM# 619656 Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657
Green SMAD2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Loeys-Dietz syndrome 6, MIM# 619656 Tags cardiac treatable
Green SMAD2 in Pneumothorax Level 3: Structural lung disorders Level 2: Respiratory disorders Version 1.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Loeys-Dietz syndrome,MONDO:0018954
Green SMAD2 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Phenotypes Loeys-Dietz syndrome 6, MIM# 619656
Green SMAD2 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Loeys-Dietz syndrome 6, MIM# 619656 Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657
Red SMAD2 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Loeys-Dietz syndrome
Green SMAD2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Loeys-Dietz syndrome 6, MIM# 619656 Tags cardiac treatable
Green SMAD2 in Pneumothorax Level 3: Structural lung disorders Level 2: Respiratory disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Loeys-Dietz syndrome,MONDO:0018954