Pigmentary skin disorders
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
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI
Publications
Catherine Snow (Genomics England)
Following discussion with the Genomics England clinical team it was agreed that genes associated with Fanconi anaemia should be included on this panel. Therefore added to panel as a Green gene.Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.22
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- FANCI
- FANCONI ANEMIA, COMPLEMENTATION GROUP I
- OMIM
- 611360
- Clinvar variants
- Variants in FANCI
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Structural eye disease
- Radial dysplasia
- Limb disorders
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Haematological malignancies cancer susceptibility
- Severe microcephaly
- Cytopenias and congenital anaemias
- COVID-19 research
- Confirmed Fanconi anaemia or Bloom syndrome
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Intellectual disability
- Head and neck cancer pertinent cancer susceptibility
- DDG2P
- Primary immunodeficiency or monogenic inflammatory bowel disease
- IUGR and IGF abnormalities
- Childhood solid tumours
- Pigmentary skin disorders
History Filter Activity
12 Dec 2019, Gel status: 3
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes FANCI; FANCONI ANEMIA, COMPLEMENTATION GROUP I for gene: FANCI Publications for gene FANCI were changed from to 17452773
2 Dec 2019, Gel status: 3
Added New Source, Status Update
Catherine Snow (Genomics England)Source Expert Review Green was added to FANCI. Rating Changed from Red List (low evidence) to Green List (high evidence)
2 Dec 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: FANCI was added gene: FANCI was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal