FANCI

Fanconi anemia complementation group I
OMIM: 611360, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green FANCI 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 anemia, complementation group I, MIM# 609053
  • MONDO:0012186

Green FANCI 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 anemia, complementation group I, MIM# 609053
  • MONDO:0012186

Green FANCI in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group I, MIM# 609053
  • MONDO:0012186
  • primary ovarian failure MONDO:0005387, FANCI-related

Green FANCI 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 I (MIM#609053)

Green FANCI in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

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

Green FANCI 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 anemia, complementation group I, MIM# 609053
    • MONDO:0012186

    Red FANCI in NCGC


    Version 0.2

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

    Red FANCI in TCGA_PANCAN_2018


    Version 0.2

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

    Green FANCI 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 I, 609053 (3)

    Amber FANCI in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.328

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature

    Green FANCI in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

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

    Green FANCI in Growth failure


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anemia, complementation group I, MIM# 609053
    • MONDO:0012186

    Green FANCI 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 I, MIM# 609053
    • MONDO:0012186

    Green FANCI in IBMDx study


    Version 0.25

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anemia, complementation group I, MIM# 609053
    • MONDO:0012186

    Green FANCI 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 I, 609053 (3)

    Green FANCI in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Fanconi anaemia, MIM#609053
    Tags
    • treatable
    • haematological

    Green FANCI 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 I, 609053 (3)