Growth failure
Gene: FANCLEnsemblGeneIds (GRCh38): ENSG00000115392
EnsemblGeneIds (GRCh37): ENSG00000115392
OMIM: 608111, Gene2Phenotype
FANCL is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, 10:50 a.m. | Last Modified: 6 Aug 2021, 5:16 a.m.
Panel Version: 0.39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- 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
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Clefting disorders
- Prepair 1000+
- Microcephaly
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Cancer Predisposition_Paediatric
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Radial Ray Abnormalities
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- IBMDx study
- Prepair 500+
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fancl has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FANCL were changed from Fanconi anemia; 614083Fanconi anemia, complementation group L; Fanconi anemia, complementation group L, 614083; Fanconi Anemia to Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FANCL were set to 25754594; 12724401; 19405097; 12973351; 16474160
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FANCL was added gene: FANCL was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCL were set to 25754594; 12724401; 19405097; 12973351; 16474160 Phenotypes for gene: FANCL were set to Fanconi anemia; 614083Fanconi anemia, complementation group L; Fanconi anemia, complementation group L, 614083; Fanconi Anemia