FANCE

Fanconi anemia complementation group E
OMIM: 613976, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green FANCE in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

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 1.19

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 1.1891

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 1.269

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 1.10

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 Homologous_recombination_deficiency_WTS_UMCCR


    Level 2: Cancer
    Version 0.43

    review Unknown
    Sources
    • Expert list
    • Expert Review Green
    Tags
    • umccr

    Red FANCE in CGC_86


    Version 0.2

    review Other
    Sources
    • CGC_86
    Phenotypes
    • Fanconi anemia, complementation group E

    Red FANCE in NCGC


    Version 0.2

    review Other
    Sources
    • NCGC
    Phenotypes
    • Fanconi anemia, complementation group E

    Red FANCE in TCGA_PANCAN_2018


    Version 0.2

    review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Fanconi anemia, complementation group E

    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 1.255

    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 0.25

    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 1.9

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

    Red FANCE in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    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 1.1

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