Structural eye disease
Gene: FANCE
FANCE (Fanconi anemia complementation group E)
EnsemblGeneIds (GRCh38): ENSG00000112039
EnsemblGeneIds (GRCh37): ENSG00000112039
OMIM: 613976, Gene2Phenotype
FANCE is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000112039
EnsemblGeneIds (GRCh37): ENSG00000112039
OMIM: 613976, Gene2Phenotype
FANCE is in 20 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
No evidence of FANCE 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 E, FANCE
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- Phenotypes
-
- Fanconi Anemia, Complementation Group E, FANCE, 600901
- OMIM
- 613976
- Clinvar variants
- Variants in FANCE
- Penetrance
- None
- Panels with this gene
-
- Cytopenias and congenital anaemias
- 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
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 FANCE. Source Expert Review Red was added to FANCE. 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 FANCE. 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: FANCE was added gene: FANCE was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCE were set to Fanconi Anemia, Complementation Group E, FANCE, 600901