FANCA

FA complementation group A
OMIM: 607139, ClinGen, DECIPHER

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green FANCA 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
  • AML, Leukaemia
  • MDS
  • leukaemia
  • AML
  • Squamous cell carcinoma: oral, GI, vulvar
  • Class: BM failure FA, (typ AR)
  • Fanconi anaemia A

Green FANCA 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 A, MIM# 227650
    • MONDO:0009215

    Green FANCA 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 A, MIM# 227650
    • MONDO:0009215

    Green FANCA in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.13

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Fanconi anaemia complementation group A - MONDO:0009215

    Green FANCA in Mendeliome


    Version 2.588

    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 2.32

    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 1.2

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

    Green FANCA in Additional findings_Adult


    Level 2: Screening
    Version 3.1

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

    Green FANCA in Homologous_recombination_deficiency_WTS_UMCCR


    Level 2: Cancer
    Version 1.0

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

    Green FANCA 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 A, 227650 (3)

    Amber FANCA in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 1.4

    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 1.1

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

    Green FANCA 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 A, MIM# 227650
    • MONDO:0009215

    Green FANCA in Fetal anomalies


    Version 2.81

    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 1.2

    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 3.0

    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 2.7

    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 3.0

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