SMAD3

SMAD family member 3
OMIM: 603109, ClinGen, DECIPHER

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green SMAD3 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.86

3 reviews 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 0.416

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SMAD3 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.52

1 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 0.430

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SMAD3 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Loeys-Dietz syndrome 3, MIM# 613795

Green SMAD3 in Incidentalome


Version 0.318

4 reviews 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 0.169

1 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 0.302

0 reviews 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

Green SMAD3 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews 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 0.260

0 reviews 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

1 review Unknown
Sources
  • Expert Review Red
  • NSW Health Pathology

Green SMAD3 in Fetal anomalies


Version 1.313

1 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 1.116

1 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

Green SMAD3 in Pneumothorax

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • 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

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Loeys-Dietz syndrome 3, MIM# 613795

Green SMAD3 in Spontaneous coronary artery dissection


Level 2: Cardiovascular disorders
Version 0.56

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Loeys-Dietz syndrome 3, MIM# 613795