IUGR and IGF abnormalities
Gene: FANCIEnsemblGeneIds (GRCh38): ENSG00000140525
EnsemblGeneIds (GRCh37): ENSG00000140525
OMIM: 611360, Gene2Phenotype
FANCI is in 21 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is on the non-fanconi gene panel, and should be included as green on this panel.Created: 7 Jun 2016, 12:38 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert review
- Phenotypes
-
- Fanconi Anemia
- Fanconi anemia, complementation group I, 609053
- Fanconi anemia
- OMIM
- 611360
- Clinvar variants
- Variants in FANCI
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Severe microcephaly
- Cytopenias and congenital anaemias
- COVID-19 research
- Monogenic short stature
- Neurofibromatosis Type 1
- Structural eye disease
- Childhood solid tumours
- Haematological malignancies for rare disease
- Intellectual disability
- Confirmed Fanconi anaemia or Bloom syndrome
- Pigmentary skin disorders
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- IUGR and IGF abnormalities
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Limb disorders
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)FANCI was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)FANCI was added to IUGR and IGF abnormalitiespanel. Sources: Expert review