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IBMDx study

Gene: FANCE

Green List (high evidence)
FANCE (Fanconi anemia complementation group E)
EnsemblGeneIds (GRCh38): ENSG00000112039
EnsemblGeneIds (GRCh37): ENSG00000112039
OMIM: 613976, Gene2Phenotype
FANCE is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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.
Created: 22 Apr 2021, 3:35 a.m. | Last Modified: 22 Apr 2021, 3:35 a.m.
Panel Version: 0.206

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953

Publications

Created: 22 Apr 2021, 3:35 a.m.
Last Modified: 22 Apr 2021, 3:35 a.m.
Panel version: Imported from Bone Marrow Failure panel version 0.206

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group E, MIM# 600901
  • MONDO:0010953
OMIM
613976
Clinvar variants
Variants in FANCE
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FANCE was added gene: FANCE was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: FANCE was set to Unknown Phenotypes for gene: FANCE were set to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953