Clefting
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
Louise Daugherty (Genomics England Curator)
Comment on list classification: Changed from Amber to Red, clefting is not a clear featureCreated: 31 May 2017, 8:24 a.m.
Update from clinical team. FANCL is appropriately represented on other panels, clefting is not a clear feature.
Created: 31 May 2017, 8:20 a.m.
Comment on list classification: To be reviewed by clinical team for inclusion for clefting panelCreated: 29 May 2017, 2:45 p.m.
Comment on publications: Noted in clinical synopsis in OMIM that Cleft palate observed in some patients- although only one case in the literature PMID: 25754594Created: 29 May 2017, 2:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group L, 614083
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Fanconi anemia, complementation group L, 614083
- OMIM
- 608111
- Clinvar variants
- Variants in FANCL
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Clefting
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- 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
31 May 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 1
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
29 May 2017, Gel status: 2
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
29 May 2017, Gel status: 3
Set publications
Louise Daugherty (Genomics England Curator)Publications for FANCL were set to 25754594
29 May 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)FANCL was created by LouiseD
29 May 2017, Gel status: 3
Added New Source
Louise Daugherty (Genomics England Curator)FANCL was added to Cleftingpanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services