Rare genetic inflammatory skin disorders
Gene: FOXC2
FOXC2 (forkhead box C2)
EnsemblGeneIds (GRCh38): ENSG00000176692
EnsemblGeneIds (GRCh37): ENSG00000176692
OMIM: 602402, Gene2Phenotype
FOXC2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000176692
EnsemblGeneIds (GRCh37): ENSG00000176692
OMIM: 602402, Gene2Phenotype
FOXC2 is in 13 panels
1 review
Catherine Snow (Genomics England)
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:FOXC2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.14
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- OMIM
- 602402
- Clinvar variants
- Variants in FOXC2
- Penetrance
- None
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Rare genetic inflammatory skin disorders
- Vascular skin disorders
- Unexplained kidney failure in young people
- DDG2P
- Intellectual disability
- Fetal anomalies
- Fetal hydrops
- Clefting
- Primary lymphoedema
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- CAKUT
History Filter Activity
2 Sep 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: FOXC2 was added gene: FOXC2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown