Growth failure
Gene: FANCIEnsemblGeneIds (GRCh38): ENSG00000140525
EnsemblGeneIds (GRCh37): ENSG00000140525
OMIM: 611360, Gene2Phenotype
FANCI is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Established gene-disease association.
Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Poor growth is a key feature.Created: 22 Apr 2021, 10:10 a.m. | Last Modified: 6 Aug 2021, 5:15 a.m.
Panel Version: 0.38
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Victorian Clinical Genetics Services
- Phenotypes
-
- Fanconi anemia, complementation group I, MIM# 609053
- MONDO:0012186
- OMIM
- 611360
- Clinvar variants
- Variants in FANCI
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Prepair 1000+
- Microcephaly
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Cancer Predisposition_Paediatric
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Radial Ray Abnormalities
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- IBMDx study
- Prepair 500+
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fanci has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FANCI were changed from 609053 Fanconi anemia, complementation group I; Fanconi anemia; Fanconi anemia, complementation group I, 609053; Fanconi Anemia to Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FANCI was added gene: FANCI was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCI were set to 17452773; 11239453 Phenotypes for gene: FANCI were set to 609053 Fanconi anemia, complementation group I; Fanconi anemia; Fanconi anemia, complementation group I, 609053; Fanconi Anemia