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  1. Genes and Genomic Entities
  2. SMAD4

SMAD4

SMAD family member 4
OMIM: 600993, Gene2Phenotype

23 panels

Panel Reviews Mode of inheritance Details
23 panels

Green SMAD4 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.239

1 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 1.100

2 reviews 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 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel

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

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

    Green SMAD4 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.474

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

    Green SMAD4 in Mendeliome


    Version 1.3499

    		1 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 0.132

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

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

    Green SMAD4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.398

    		1 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 0.346

    		1 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

    		1 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 1.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  1 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 Pulmonary Arterial Hypertension


    Level 2: Cardiovascular disorders
    Version 1.45

    		2 reviews 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 1.28

    		1 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 1.9

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050

    Green SMAD4 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
    • Juvenile polyposis syndrome

    Green SMAD4 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
    • MYHRE SYNDROME
    • MYHRS

    Amber SMAD4 in Incidentalome_PREGEN_DRAFT


    Version 0.43

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

    Green SMAD4 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.78

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

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

    Green SMAD4 in Fetal anomalies


    Version 1.465

    		1 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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 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


    Level 2: Screening
    Version 0.20

    		0 reviews 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 Colorectal Cancer and Polyposis


    Level 2: Cancer Predisposition
    Version 1.1

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MONDO:0008278
    • Polyposis, juvenile intestinal, MIM#174900
    • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM#175050