Cytopenias and congenital anaemias
Gene: FANCLEnsemblGeneIds (GRCh38): ENSG00000115392
EnsemblGeneIds (GRCh37): ENSG00000115392
OMIM: 608111, Gene2Phenotype
FANCL is in 20 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient evidenceCreated: 28 Feb 2017, 1:38 p.m.
4 cases on OMIMCreated: 22 Feb 2017, 4:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group L 614083
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Fanconi Anemia
- Fanconi anemia, complementation group L, 614083
- OMIM
- 608111
- Clinvar variants
- Variants in FANCL
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Clefting
- Childhood solid tumours cancer susceptibility
- Structural eye disease
- Radial dysplasia
- Limb disorders
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Haematological malignancies cancer susceptibility
- Severe microcephaly
- Cytopenias and congenital anaemias
- COVID-19 research
- DDG2P
- Confirmed Fanconi anaemia or Bloom syndrome
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Fetal anomalies
- Head and neck cancer pertinent cancer susceptibility
- IUGR and IGF abnormalities
- Childhood solid tumours
- Pigmentary skin disorders
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for FANCL were set to Fanconi Anemia; Fanconi anemia, complementation group L, 614083;
Set publications
Helen Brittain (Genomics England Curator)Publications for FANCL were set to 12973351; 19405097; 12724401; 25754594; 16474160
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)FANCL was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert list
Created
Louise Daugherty (Genomics England Curator)FANCL was created by LouiseD