SMAD3

SMAD family member 3
OMIM: 603109, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green SMAD3 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 3, MIM# 613795
Green SMAD3 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SMAD3 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 3, MIM# 613795
Green SMAD3 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SMAD3 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 Loeys-Dietz syndrome 3, MIM# 613795
Green SMAD3 in Incidentalome Version 0.301	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 3, MIM# 613795 Tags cardiac
Green SMAD3 in Additional findings_Adult Level 2: Screening Version 0.166	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Loeys-Dietz syndrome 3, MIM# 613795
Green SMAD3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Phenotypes Loeys-Dietz syndrome 3 613795
Red SMAD3 in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 0.39 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Genomics England PanelApp Expert Review Red Phenotypes Loeys-Dietz syndrome 3 613795
Green SMAD3 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Loeys-Dietz syndrome
Green SMAD3 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 LOEYS-DIETZ SYNDROME 3 LDS3
Red SMAD3 in Incidentalome_PREGEN_DRAFT Version 0.43	review	Unknown	Sources Expert Review Red NSW Health Pathology
Green SMAD3 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Loeys-Dietz syndrome, SMAD3 related, MIM#613795, MONDO:0018954
Green SMAD3 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene Phenotypes Loeys-Dietz syndrome 3, MIM# 613795 Tags cardiac treatable
Amber SMAD3 in Pneumothorax Level 3: Structural lung disorders Level 2: Respiratory disorders Version 0.11	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Amber Expert list Phenotypes Pulmonary emphysema, MONDO:0004849 Loeys-Dietz syndrome type 3, OMIM:613795
Green SMAD3 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 3, MIM# 613795