FANCE

FA complementation group E
OMIM: 613976, ClinGen, DECIPHER

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green FANCE in Haematological malignancies


Level 2: Cancer susceptibility
Version 0.148

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bone marrow failure
  • Fanconi anaemia E
  • MDS
  • leukaemia
  • AML
  • Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar
  • Class: BM failure FA, (typ AR)

Green FANCE in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.9

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews 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 2.3

    1 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 2.588

    1 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 2.32

    1 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 1.2

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

    Green FANCE in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 1 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 Additional findings_Adult


    Level 2: Screening
    Version 3.1

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

    Green FANCE in Homologous_recombination_deficiency_WTS_UMCCR


    Level 2: Cancer
    Version 1.0

    0 reviews Unknown
    Sources
    • Expert list
    • Expert Review Green
    Tags
    • umccr

    Green FANCE in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    0 reviews 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 1.1

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

    Green FANCE in Growth failure


    Version 2.28

    1 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 2.81

    2 reviews 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 1.2

    1 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 3.0

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

    Red FANCE in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.7

    0 reviews 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 3.0

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