FAT4

FAT atypical cadherin 4
OMIM: 612411, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Amber FAT4 in Periventricular Grey Matter Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.2

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Australian Genomics Health Alliance Brain Malformation Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Van Maldergem syndrome 2, MIM# 615546

    Green FAT4 in Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 1.0

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hennekam Syndrome, MIM# 235510
    • childhood pulmonary lymphangiectasia

    Green FAT4 in Lymphoedema_nonsyndromic


    Level 2: Cardiovascular disorders
    Version 0.44

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FAT4 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006
    • Van Maldergem syndrome 2 MIM#615546

    Green FAT4 in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 0.87

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hennekam Syndrome, MIM# 235510
    • childhood pulmonary lymphangiectasia

    Green FAT4 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

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

    Green FAT4 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.115

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hennekam lymphangiectasia-lymphedema syndrome 2, MIM# 616006
    • Low/variable T and B cells
    • Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features

    Green FAT4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Hennekam syndrome MONDO:0016256
    • van Maldergem syndrome MONDO:0017813

    Green FAT4 in Lymphoedema_syndromic

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • London South GLH
    Phenotypes
    • Hennekam lymphangiectasia-lymphedema syndrome 2, 616006
    • Van Maldergem syndrome 2, 615546

    Green FAT4 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)

    Green FAT4 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006
    • Van Maldergem syndrome 2 MIM#615546

    Green FAT4 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006
    • Van Maldergem syndrome 2 MIM#615546

    Green FAT4 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)