Bone Marrow Failure
Gene: FANCL

FANCL (Fanconi anemia complementation group L)
EnsemblGeneIds (GRCh38): ENSG00000115392
EnsemblGeneIds (GRCh37): ENSG00000115392
OMIM: 608111, Gene2Phenotype
FANCL is in 16 panels

2 reviews

Santosh Varughese (University of Melbourne)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group L

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 May 2024, 8:43 a.m.
Last Modified: 22 May 2024, 8:43 a.m.
Panel version: 1.91

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: 0.212

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Publications

Panels with this gene