This Panel is marked as Internal
Anaemias and red cell disorders
Gene: FANCE
FANCE (Fanconi anemia complementation group E)
EnsemblGeneIds (GRCh38): ENSG00000112039
EnsemblGeneIds (GRCh37): ENSG00000112039
OMIM: 613976, Gene2Phenotype
FANCE is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000112039
EnsemblGeneIds (GRCh37): ENSG00000112039
OMIM: 613976, Gene2Phenotype
FANCE is in 20 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Fanconi Anemia
- Fanconi anemia, complementation group E, 600901
- Fanconi anemia
- Fanconi Anaemia
- OMIM
- 613976
- Clinvar variants
- Variants in FANCE
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- IUGR and IGF abnormalities
- Structural eye disease
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
History Filter Activity
22 Jul 2016, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)FANCE was added to Anaemias and red cell disorderspanel. Source: Expert list
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FANCE was created by ellenmcdonagh
22 Jul 2016, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)FANCE was added to Anaemias and red cell disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN