Severe microcephaly
Gene: FANCEEnsemblGeneIds (GRCh38): ENSG00000112039
EnsemblGeneIds (GRCh37): ENSG00000112039
OMIM: 613976, Gene2Phenotype
FANCE is in 20 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
emma baple (South West GMC)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Other
- Expert Review Green
- Phenotypes
-
- Fanconi anemia, complementation group E, 600901 (Microcephaly)
- OMIM
- 613976
- Clinvar variants
- Variants in FANCE
- Penetrance
- Complete
- Panels with this gene
-
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Severe microcephaly
- Monogenic short stature
- Cytopenias and congenital anaemias
- COVID-19 research
- Intellectual disability
- Fanconi anaemia or Bloom syndrome
- DDG2P
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Head and neck cancer pertinent cancer susceptibility
- Structural eye disease
- IUGR and IGF abnormalities
- Fetal anomalies
- Childhood solid tumours
- Limb disorders
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FANCE.
panel promoted to version 1
Rebecca Foulger (Genomics England curator)2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
Created
Rebecca Foulger (Genomics England curator)FANCE was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)FANCE was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other, Expert Review Green