Limb disorders
Gene: FANCIEnsemblGeneIds (GRCh38): ENSG00000140525
EnsemblGeneIds (GRCh37): ENSG00000140525
OMIM: 611360, Gene2Phenotype
FANCI is in 21 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: In biallelic form, causes FA and therefore radial dysplasia is an associated phenotypic feature.Created: 11 May 2017, 9:48 a.m.
Comment when marking as ready: Sufficient evidenceCreated: 28 Feb 2017, 1:36 p.m.
3 cases with biallelic mutations in OMIMCreated: 22 Feb 2017, 3:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group I 609053
Publications
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Fanconi anemia, complementation group I, 609053
- Radial Ray abnormality
- OMIM
- 611360
- Clinvar variants
- Variants in FANCI
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- 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
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Helen Brittain: 3 cases with biallelic mutatio
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to FANCI. Mode of inheritance for gene FANCI was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group I, 609053 for gene: FANCI Publications for gene FANCI were changed from to 11239453; 17452773
Added New Source
Ellen McDonagh (Genomics England Curator)FANCI was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)FANCI was created by Ellen McDonagh