Clefting
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
Helen Brittain (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LYMPHEDEMA-DISTICHIASIS SYNDROME
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Phenotypes
-
- LYMPHEDEMA-DISTICHIASIS SYNDROME
- Cleft palate
- OMIM
- 602402
- Clinvar variants
- Variants in FOXC2
- Penetrance
- Complete
- 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
13 Aug 2018, Gel status: 4
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to FOXC2. Panel: Clefting Phenotypes for gene FOXC2 were set to LYMPHEDEMA-DISTICHIASIS SYNDROME, Cleft palate
31 May 2017, Gel status: 4
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
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)FOXC2 was added to Cleftingpanel. Sources: Expert Review Green
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FOXC2 was created by ellenmcdonagh