PanelApp (test)
  1. Genes and Genomic Entities
  2. SMAD4

SMAD4

SMAD family member 4
OMIM: 600993, Gene2Phenotype

25 panels

Panel Reviews Mode of inheritance Details
25 panels

Green SMAD4 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Myhre syndrome - OMIM#139210
  • MONDO:0007688

Green SMAD4 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050
  • Thoracic aortic aneurysm

Green SMAD4 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 SMAD4 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
    • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050
    • Thoracic aortic aneurysm

    Green SMAD4 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.418

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SMAD4 in Mendeliome


    Version 1.1902

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Juvenile polyposis/hereditary haemorrhagic telangiectasia syndrome, MIM# 175050
    • Polyposis, juvenile intestinal, MIM# 174900
    • Myhre syndrome, MIM# 139210

    Green SMAD4 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.131

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SMAD4 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
    • vJuvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050

    Green SMAD4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Myhre syndrome MIM#139210

    Green SMAD4 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Myhre syndrome 139210
    • Myhre syndrome 139210

    Green SMAD4 in Hereditary Haemorrhagic Telangiectasia


    Level 2: Vascular disorders
    Version 1.5

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050

    Green SMAD4 in Vascular Malformations_Germline


    Level 2: Cardiovascular disorders
    Version 1.11

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050

    Red SMAD4 in CGC_86


    Version 0.2

    		review Other
    Sources
    • CGC_86
    Phenotypes
    • Juvenile polyposis syndrome

    Red SMAD4 in NCGC


    Version 0.2

    		review Other
    Sources
    • NCGC
    Phenotypes
    • Juvenile polyposis syndrome

    Red SMAD4 in TCGA_PANCAN_2018


    Version 0.2

    		review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Juvenile polyposis syndrome

    Red SMAD4 in Pulmonary Arterial Hypertension


    Level 2: Cardiovascular disorders
    Version 1.39

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Pulmonary arterial hypertension MONDO:0015924, SMAD4-related
    Tags
    • disputed

    Green SMAD4 in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050

    Green SMAD4 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 Green
    Phenotypes
    • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050

    Green SMAD4 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
    • Juvenile polyposis syndrome

    Green SMAD4 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
    • MYHRE SYNDROME
    • MYHRS

    Amber SMAD4 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		review Unknown
    Sources
    • Expert Review Amber
    • NSW Health Pathology

    Green SMAD4 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.74

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Myhre syndrome 139210

    Green SMAD4 in Fetal anomalies


    Version 1.255

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Myhre syndrome, OMIM#139210, MONDO:0007688

    Red SMAD4 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Polyposis, juvenile intestinal, MIM# 174900
    • Myhre syndrome, MIM# 139210

    Green SMAD4 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
    • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050
    • Thoracic aortic aneurysm