Structural eye disease
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
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
No evidence of FANCI being involved in structural eye disease found.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Mariya Moosajee (Moorfields Eye Hospital)
Phenotypes
Fanconi Anemia, Complementation Group I, FANCI
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- Phenotypes
-
- Fanconi Anemia, Complementation Group I, FANCI, 609053
- OMIM
- 611360
- Clinvar variants
- Variants in FANCI
- Penetrance
- None
- Panels with this gene
-
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Severe microcephaly
- Cytopenias and congenital anaemias
- COVID-19 research
- Intellectual disability
- 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
1 Oct 2019, Gel status: 1
Added New Source, Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to FANCI. Source Expert Review Red was added to FANCI. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
16 Sep 2019, Gel status: 2
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to FANCI. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
23 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: FANCI was added gene: FANCI was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCI were set to Fanconi Anemia, Complementation Group I, FANCI, 609053