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  3. FANCE
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Growth failure

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. Poor growth is a key feature.
Created: 22 Apr 2021, 3:29 a.m. | Last Modified: 6 Aug 2021, 3:15 a.m.
Panel Version: 0.32

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 22 Apr 2021, 3:29 a.m.
Last Modified: 6 Aug 2021, 3:15 a.m.
Panel version: Imported from Chromosome Breakage Disorders panel version 0.94

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group E, MIM# 600901
  • MONDO:0010953
OMIM
613976
Clinvar variants
Variants in FANCE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fance has been classified as Green List (High Evidence).

6 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FANCE were changed from Fanconi anemia; Fanconi anemia, complementation group E, 600901; 600901 Fanconi anemia, complementation group E; Fanconi Anemia to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953

6 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FANCE were set to 7662964; 10205272; 9147877; 9382107

19 Jul 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FANCE was added gene: FANCE was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCE were set to 7662964; 10205272; 9147877; 9382107 Phenotypes for gene: FANCE were set to Fanconi anemia; Fanconi anemia, complementation group E, 600901; 600901 Fanconi anemia, complementation group E; Fanconi Anemia