FANCA

Fanconi anemia complementation group A
OMIM: 607139, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels

Green FANCA in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Fanconi anemia, complementation group A, 227650

Green FANCA in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: BM failure FA, (typ AR)
  • AML
  • leukaemia
  • Fanconi anaemia A
  • MDS
  • AML, Leukaemia
  • Squamous cell carcinoma: oral, GI, vulvar

Green FANCA in Head and neck cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Head and neck cancer

Green FANCA in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.30

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review
  • Expert Review Green
  • Literature
Phenotypes
  • pre- and postnatal growth retardation
  • malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii)
  • a typical facial appearance with small head, eyes, and mouth
  • hearing loss
  • hypogonadism and reduced fertility
  • cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots)
  • bone marrow failure
  • and susceptibility to cancer, predominantly acute myeloid leukemia.
  • Fanconi Anemia
  • Fanconi anemia, complementation group A, 227650
  • Fanconi anemia

Green FANCA in Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.26

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group A, 227650
  • Fanconi Anemia
  • Fanconi Anaemia

Green FANCA in COVID-19 research


Level 2: Viral research
Version 1.59

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group A, 227650

Red FANCA in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Fanconi anemia, complementation group A 227650

Green FANCA in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.7
Signed off v.2.5 on 4 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fanconi anemia, complementation group A, 227650
  • Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

Green FANCA in Limb disorders


Version 2.11
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anemia, complementation group A, 227650
    • Radial Ray abnormality

    Green FANCA in Pigmentary skin disorders


    Version 1.3
    Signed off v.1.2 on 19 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • FANCA
    • FANCONI ANEMIA, COMPLEMENTATION GROUP A

    Green FANCA in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.73

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Fanconi anemia, complementation group A, 227650
    • Fanconi anemia

    Green FANCA in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fanconi Anemia

    Green FANCA in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.4
    Signed off v.2.2 on 18 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Fanconi Anemia

    Green FANCA in Haematological malignancies cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.3
    Signed off v.2.2 on 18 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Curated sources
    Phenotypes
    • Class: BM failure FA, (typ AR)
    • AML
    • leukaemia
    • Fanconi anaemia A
    • MDS
    • AML, Leukaemia
    • Squamous cell carcinoma: oral, GI, vulvar

    Green FANCA in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.11
    Signed off v.2.2 on 2 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Other
    • Expert Review Green
    Phenotypes
    • Fanconi anemia, complementation group A, 227650 (Microcephaly)

    Green FANCA in Confirmed Fanconi anaemia or Bloom syndrome


    Version 1.5
    Signed off v.1.2 on 3 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • Fanconi anemia, complementation group A, 227650
    • Fanconi anemia
    • 227650 Fanconi anemia complementation group A

    Green FANCA in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FANCONI ANEMIA, COMPLEMENTATION GROUP A

    Green FANCA in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FANCONI ANEMIA, COMPLEMENTATION GROUP A 227650

    Green FANCA in Growth failure in early childhood


    Version 1.8
    Signed off v.1.4 on 3 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • pre- and postnatal growth retardation
    • a typical facial appearance with small head, eyes, and mouth
    • hypogonadism and reduced fertility
    • malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii)
    • Fanconi anemia, complementation group A, 227650
    • cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots)
    • hearing loss
    • and susceptibility to cancer, predominantly acute myeloid leukemia.
    • Fanconi Anemia
    • 227650 Fanconi anemia complementation group A
    • Fanconi anemia
    • bone marrow failure

    Amber FANCA in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.160
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO

    Red FANCA in Structural eye disease


    Version 1.9
    Signed off v.1.3 on 4 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Fanconi Anemia, Complementation Group A, FA, 227650

    Green FANCA in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fanconi anemia, complementation group A, 227650