Neurofibromatosis Type 1
Gene: FANCEEnsemblGeneIds (GRCh38): ENSG00000112039
EnsemblGeneIds (GRCh37): ENSG00000112039
OMIM: 613976, Gene2Phenotype
FANCE is in 20 panels
3 reviews
Helen Lindsay (Leeds Genetics Laboratory)
Variants in this GENE are reported as part of current diagnostic practice
Mark Greenslade (Bristol Genetics Laboratory)
Helen Savage (Congenica Ltd)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia complementation group E
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Fanconi anemia, complementation group E, 600901
- Fanconi Anemia
- Fanconi Anaemia
- OMIM
- 613976
- Clinvar variants
- Variants in FANCE
- Penetrance
- Complete
- Panels with this gene
-
- Adult solid tumours cancer susceptibility
- Severe microcephaly
- Haematological malignancies cancer susceptibility
- Monogenic short stature
- Cytopenias and congenital anaemias
- COVID-19 research
- Fanconi anaemia or Bloom syndrome
- Neurofibromatosis Type 1
- Fetal anomalies
- Haematological malignancies for rare disease
- Intellectual disability
- Limb disorders
- Head and neck cancer pertinent cancer susceptibility
- Structural eye disease
- IUGR and IGF abnormalities
- Childhood solid tumours
- Pigmentary skin disorders
- DDG2P
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Panel finalised 14th November 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Alice Gardham (Genomics England)FANCE was added to Neurofibromatosis Type 1panel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Created
Alice Gardham (Genomics England)FANCE was created by agardham