FANCE

Fanconi anemia complementation group E
OMIM: 613976, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green FANCE in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group E, MIM# 600901
    • MONDO:0010953

    Green FANCE in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.21

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group E, MIM# 600901
    • MONDO:0010953

    Green FANCE in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group E, MIM# 600901
    • MONDO:0010953

    Green FANCE in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.301

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Fanconi anemia, complementation group E, MIM#600901

    Green FANCE in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.131

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

    Green FANCE in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.15

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group E, MIM# 600901
    • MONDO:0010953

    Green FANCE 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
    • Fanconi anemia, complementation group E, 600901 (3)

    Red FANCE in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Fanconi anaemia

    Green FANCE in Growth failure


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group E, MIM# 600901
    • MONDO:0010953

    Green FANCE in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group E, MIM# 600901
    • MONDO:0010953

    Green FANCE in IBMDx study


    Version 0.35

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group E, MIM# 600901
    • MONDO:0010953

    Green FANCE in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Fanconi anaemia, complementation group E, MIM#600901

    Red FANCE in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • Fanconi anaemia
    • Fanconi anaemia, MIM#600901

    Green FANCE in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Fanconi anemia, complementation group E, 600901 (3)