Congenital anaemias
Gene: FANCIEnsemblGeneIds (GRCh38): ENSG00000140525
EnsemblGeneIds (GRCh37): ENSG00000140525
OMIM: 611360, Gene2Phenotype
FANCI is in 21 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Fanconi Anemia
- Fanconi anemia, complementation group I, 609053
- 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
- Intellectual disability
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- Neurofibromatosis Type 1
- Fetal anomalies
- Structural eye disease
- Childhood solid tumours
- Haematological malignancies for rare disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- IUGR and IGF abnormalities
- Monogenic short stature
- Limb disorders
- DDG2P
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)FANCI was added to Congenital anaemiaspanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)FANCI was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)FANCI was added to Congenital anaemiaspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()FANCI was added to Congenital anaemiaspanel. Sources: UKGTN
Added New Source
GEL ()FANCI was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()FANCI was added to Congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services