Microcephaly
Gene: FANCL
FANCL (Fanconi anemia complementation group L)
EnsemblGeneIds (GRCh38): ENSG00000115392
EnsemblGeneIds (GRCh37): ENSG00000115392
OMIM: 608111, Gene2Phenotype
FANCL is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000115392
EnsemblGeneIds (GRCh37): ENSG00000115392
OMIM: 608111, Gene2Phenotype
FANCL is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, microcephaly is a key feature.
Sources: Expert listCreated: 2 Sep 2020, 6:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group L, MIM# 614083
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Fanconi anemia, complementation group L, MIM# 614083
- 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
2 Sep 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fancl has been classified as Green List (High Evidence).
2 Sep 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fancl has been classified as Green List (High Evidence).
2 Sep 2020, Gel status: 1
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 Microcephaly. Sources: Expert list Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCL were set to 20301575 Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, MIM# 614083 Review for gene: FANCL was set to GREEN