Structural eye disease
Gene: FANCLEnsemblGeneIds (GRCh38): ENSG00000115392
EnsemblGeneIds (GRCh37): ENSG00000115392
OMIM: 608111, Gene2Phenotype
FANCL is in 20 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Vetro: Fanconi anemia case with microphthalmia carries homozygous frameshiftCreated: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Publications
Mariya Moosajee (Moorfields Eye Hospital)
Phenotypes
Fanconi Anemia, Complementation Group L, FANCL
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- London North GLH
- Phenotypes
-
- Fanconi Anemia, Complementation Group L, FANCL, 614083
- OMIM
- 608111
- Clinvar variants
- Variants in FANCL
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Clefting
- Haematological malignancies for rare disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- IUGR and IGF abnormalities
- Structural eye disease
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: FANCL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Added New Source, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to FANCL. Publications for gene FANCL were changed from to 25754594
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to FANCL. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: FANCL was added gene: FANCL was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: FANCL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FANCL were set to Fanconi Anemia, Complementation Group L, FANCL, 614083