IBMDx study
Gene: FANCL

FANCL (Fanconi anemia complementation group L)
EnsemblGeneIds (GRCh38): ENSG00000115392
EnsemblGeneIds (GRCh37): ENSG00000115392
OMIM: 608111, Gene2Phenotype
FANCL is in 16 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, 10:53 a.m. | Last Modified: 22 Apr 2021, 10:53 a.m.

Panel Version: 0.212

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566

Publications

Created: 22 Apr 2021, 10:53 a.m.
Last Modified: 22 Apr 2021, 10:53 a.m.
Panel version: Imported from Bone Marrow Failure panel version 0.212

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
IBMDx Study
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Fanconi anemia, complementation group L, MIM# 614083
MONDO:0013566

OMIM

608111

Clinvar variants

Variants in FANCL

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: FANCL was added gene: FANCL was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: FANCL was set to Unknown Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566

IBMDx study Gene: FANCL