PanelApp
  1. Genes and Genomic Entities
  2. SMAD3

SMAD3

SMAD family member 3
OMIM: 603109, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green SMAD3 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.100

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 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel

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

    Green SMAD3 in Bleeding and Platelet Disorders


    Level 2: Haematological disorders
    Version 1.62

    		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 0.474

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

    Green SMAD3 in Craniosynostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.72

    		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 0.360

    		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 1.130

    		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 0.346

    		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 0.278

    		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 1.465

    		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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		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 1.1

    		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


    Level 2: Screening
    Version 0.20

    		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