Growth failure in early childhood
Gene: FANCIEnsemblGeneIds (GRCh38): ENSG00000140525
EnsemblGeneIds (GRCh37): ENSG00000140525
OMIM: 611360, Gene2Phenotype
FANCI is in 21 panels
1 review
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that Green genes associated with the Fanconi anaemia phenotype should be included on this panel. Therefore kept on the panel as a Green gene.Created: 30 May 2019, 9:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group I, 609053; Fanconi Anemia; 609053 Fanconi anemia, complementation group I
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Fanconi anemia, complementation group I, OMIM:609053
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FANCI were changed from Fanconi anemia; Fanconi anemia, complementation group I, 609053; 609053 Fanconi anemia, complementation group I; Fanconi Anemia to Fanconi anemia, complementation group I, OMIM:609053
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: FANCI were set to
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Fanconi anemia, complementation group I, 609053; 609053 Fanconi anemia, complementation group I; Fanconi Anemia for gene: FANCI
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: FANCI was added gene: FANCI was added to Growth failure in early childhood. Sources: Expert Review Green 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, 609053; Fanconi Anemia; Fanconi anemia