SMAD3

SMAD family member 3
OMIM: 603109, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green SMAD3 in ClinGen Gene Validity Curations


Version 0.64

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Aneurysm-osteoarthritis syndrome
  • OrphaNet ORPHA284984
  • OMIM 613795

Green SMAD3 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection

Red SMAD3 in COVID-19 research


Level 2: Viral research
Version 1.77

review Unknown
Sources
  • Literature
  • Other

Red SMAD3 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.51
Latest signed off version: v2.2 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Loeys-Dietz syndrome 3 613795

Amber SMAD3 in Pneumothorax - familial

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 2.37
Latest signed off version: v2.17 (3 Mar 2020)

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 Thoracic aortic aneurysm and dissection


Version 1.7
Latest signed off version: v1.2 (19 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • North West GLH
  • South West GLH
  • London South GLH
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Loeys Dietz syndrome, type 3 (613795)
  • Loeys Dietz syndrome, type 3, 613795

Green SMAD3 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.112

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Loeys Dietz syndrome, type 3, 613795
  • Loeys Dietz syndrome, type 3 (613795)

Green SMAD3 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.98
Latest signed off version: v3.2 (13 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Loeys-Dietz syndrome 3 613795

Green SMAD3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.97
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Loeys-Dietz syndrome 3 613795

    Green SMAD3 in Ehlers Danlos syndromes

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 2.57
    Latest signed off version: v2.3 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Loeys-Dietz syndrome 3, OMIM:613795

    Green SMAD3 in Fetal anomalies


    Version 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • SMAD3-RELATED LOEYS-DIETZ SYNDROME

    No list SMAD3 in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.23
    Latest signed off version: v2.2 (13 Feb 2020)

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

    Green SMAD3 in DDG2P


    Version 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SMAD3-RELATED LOEYS-DIETZ SYNDROME 319643

    Green SMAD3 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.28
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • LOEYS-DIETZ SYNDROME 3
    • LDS3

    Amber SMAD3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1074
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Loeys-Dietz syndrome, type 3, 613795

    Green SMAD3 in Severe Paediatric Disorders


    Version 1.77

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Loeys-Dietz syndrome 3, 613795