IUGR and IGF abnormalities
Gene: FANCL
FANCL (Fanconi anemia complementation group L)
EnsemblGeneIds (GRCh38): ENSG00000115392
EnsemblGeneIds (GRCh37): ENSG00000115392
OMIM: 608111, Gene2Phenotype
FANCL is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000115392
EnsemblGeneIds (GRCh37): ENSG00000115392
OMIM: 608111, Gene2Phenotype
FANCL is in 20 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is on the non-fanconi gene panel, and should be included as green on this panel.Created: 7 Jun 2016, 12:41 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert review
- Phenotypes
-
- Fanconi Anemia
- Fanconi anemia, complementation group L, 614083
- Fanconi anemia
- OMIM
- 608111
- Clinvar variants
- Variants in FANCL
- Penetrance
- Complete
- Panels with this gene
-
- Haematological malignancies cancer susceptibility
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Monogenic short stature
- Fetal anomalies
- Neurofibromatosis Type 1
- Limb disorders
- Haematological malignancies for rare disease
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Severe microcephaly
- Pigmentary skin disorders
- IUGR and IGF abnormalities
- Childhood solid tumours
- Confirmed Fanconi anaemia or Bloom syndrome
- Structural eye disease
- Clefting
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
History Filter Activity
7 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
14 May 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)FANCL was added to IUGR and IGF abnormalitiespanel. Sources: Expert review
14 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FANCL was created by ellenmcdonagh