IUGR and IGF abnormalities
Gene: FANCI
FANCI (Fanconi anemia complementation group I)
EnsemblGeneIds (GRCh38): ENSG00000140525
EnsemblGeneIds (GRCh37): ENSG00000140525
OMIM: 611360, Gene2Phenotype
FANCI is in 21 panels
EnsemblGeneIds (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
-
- Cytopenias and congenital anaemias
- Limb disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Fetal anomalies
- Haematological malignancies cancer susceptibility
- 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
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Intellectual disability
History Filter Activity
7 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
14 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FANCI was created by ellenmcdonagh
14 May 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)FANCI was added to IUGR and IGF abnormalitiespanel. Sources: Expert review