SMAD6

SMAD family member 6
OMIM: 602931, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red SMAD6 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.10

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

Green SMAD6 in Limb disorders


Version 2.65
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
    • Expert Review Green
    • Expert list
    Phenotypes
    • radioulnar synostosis

    Red SMAD6 in Familial non syndromic congenital heart disease

    Level 3: Congenital heart disease
    Level 2: Cardiovascular disorders
    Version 1.65

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Aortic valve disease 2, 614823

    Green SMAD6 in Thoracic aortic aneurysm and dissection


    Version 1.18
    Latest signed off version: v1.2 (19 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • London South GLH
    • London South GLH
    Phenotypes
    • Aortic valve disease 2 614823

    Red SMAD6 in Thoracic aortic aneurysm or dissection

    Level 3: Connective tissue disorders and aortopathies
    Level 2: Cardiovascular disorders
    Version 1.123

    review Not set
    Sources
    • London South GLH

    Amber SMAD6 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.145
    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
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Radioulnar synostosis
    Tags
    • for-review

    Green SMAD6 in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.55
    Latest signed off version: v2.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • metopic synostosis
    • sagittal synostosis
    • {Craniosynostosis 7, susceptibility to} 617439
    Tags
    • polygenic
    • curated-variant-list

    Red SMAD6 in DDG2P


    Version 2.50
    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
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • Non-syndromic craniosynostosis