FANCA

Fanconi anemia complementation group A
OMIM: 607139, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green FANCA in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.6

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 1.29

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
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Fanconi anemia, complementation group A, 227650
  • Fanconi Anemia
  • Fanconi Anaemia

Red FANCA in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.16

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 2.0

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 2.0

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 0.23

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review

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
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • 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 2.0

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 2.0

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 2.0

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 1.0

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 0.371

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

Green FANCA in DDG2P


Version 1.179

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 1.3

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 3.0

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 1.0

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