FANCA

Green FANCA in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

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 1.16

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

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 1.59

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 1.32

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 1.141

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 1.67

Sources

• Expert Review Red
• Literature

Phenotypes

• Fanconi anemia, complementation group A 227650

Green FANCA in Childhood solid tumours

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

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 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 3.11
Latest signed off version: v3.0 (22 Mar 2023)

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 1.118

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 1.27

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 2.29
Latest signed off version: v2.2 (18 Feb 2020)

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 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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 4.67
Latest signed off version: v4.0 (22 Mar 2023)

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 2.4
Latest signed off version: v2.0 (22 Mar 2023)

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 3.155
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• FANCONI ANEMIA, COMPLEMENTATION GROUP A

Green FANCA in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• FANCONI ANEMIA, COMPLEMENTATION GROUP A 227650

Green FANCA in Growth failure in early childhood

Version 3.88
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green

Phenotypes

• Fanconi anemia, complementation group A, OMIM:227650

Amber FANCA in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

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 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• NHS GMS
• London North GLH

Phenotypes

• Fanconi Anemia, Complementation Group A, FA, 227650

Green FANCA in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Fanconi anemia, complementation group A, 227650