FANCA

Fanconi anemia complementation group A
OMIM: 607139, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green FANCA in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.129

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 A, MIM# 227650
    • MONDO:0009215

    Green FANCA in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.24

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group A, MIM# 227650
    • MONDO:0009215

    Green FANCA in Mendeliome


    Version 1.3512

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group A, MIM# 227650
    • MONDO:0009215

    Green FANCA in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.357

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Fanconi anemia, complementation group A (MIM#227650)

    Green FANCA in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.132

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group A, MIM# 227650
    • MONDO:0009215

    Green FANCA in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.19

    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
    Phenotypes
    • Fanconi anaemia, complementation group A, MIM# 227650
    • MONDO:0009215

    Green FANCA in Additional findings_Adult


    Level 2: Screening
    Version 1.130

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fanconi anaemia, complementation group A, MIM# 227650

    Green FANCA in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Fanconi anemia, complementation group A, 227650 (3)

    Amber FANCA in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.388

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Primary ovarian insufficiency
    • Fanconi anemia, complementation group A MIM#227650

    Green FANCA in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

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

    Green FANCA in Growth failure


    Version 1.83

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group A, MIM# 227650
    • MONDO:0009215

    Green FANCA in Fetal anomalies


    Version 1.465

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert Review
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group A, MIM# 227650
    • MONDO:0009215

    Green FANCA in IBMDx study


    Version 0.38

    1 review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • MONDO:0009215
    • Fanconi anaemia, complementation group A, MIM# 227650

    Green FANCA in Prepair 1000+


    Level 2: Screening
    Version 2.14

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Fanconi anemia, complementation group A, 227650 (3)

    Green FANCA in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Fanconi anaemia, complementation group A, MIM# 227650
    • MONDO:0009215
    Tags
    • treatable
    • haematological

    Green FANCA in Prepair 500+


    Level 2: Screening
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Fanconi anaemia, complementation group A, MIM# 227650
    • MONDO:0009215