PanelApp (test)
  1. Genes and Genomic Entities
  2. FANCA

FANCA

Fanconi anemia complementation group A
OMIM: 607139, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green FANCA 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 A, MIM# 227650
  • MONDO:0009215

Green FANCA 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 A, MIM# 227650
  • MONDO:0009215

Green FANCA in Mendeliome


Version 1.1902

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 1.269

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 0.131

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 1.10

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

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

    Green FANCA in Homologous_recombination_deficiency_WTS_UMCCR


    Level 2: Cancer
    Version 0.43

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

    Red FANCA in CGC_86


    Version 0.2

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

    Red FANCA in NCGC


    Version 0.2

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

    Red FANCA in TCGA_PANCAN_2018


    Version 0.2

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

    Green FANCA 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 A, 227650 (3)

    Amber FANCA in Primary Ovarian Insufficiency_Premature Ovarian Failure

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

    		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

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

    Green FANCA 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 A, MIM# 227650
    • MONDO:0009215

    Green FANCA in Fetal anomalies


    Version 1.255

    		review 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 0.25

    		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 1.9

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

    Green FANCA in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

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

    Green FANCA 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 A, 227650 (3)