Congenital diaphragmatic hernia
Gene: FOXC2
FOXC2 (forkhead box C2)
EnsemblGeneIds (GRCh38): ENSG00000176692
EnsemblGeneIds (GRCh37): ENSG00000176692
OMIM: 602402, Gene2Phenotype
FOXC2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000176692
EnsemblGeneIds (GRCh37): ENSG00000176692
OMIM: 602402, Gene2Phenotype
FOXC2 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single individual reported with CDH, some supportive functional data.
Sources: LiteratureCreated: 21 Jun 2021, 8:25 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lymphedema-distichiasis syndrome, MIM# 153400
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Lymphedema-distichiasis syndrome, MIM# 153400
- OMIM
- 602402
- Clinvar variants
- Variants in FOXC2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Clefting disorders
- Monogenic Diabetes
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Hydrops fetalis
- Lymphoedema_nonsyndromic
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Pierre Robin Sequence
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Eye Anterior Segment Abnormalities
- Congenital diaphragmatic hernia
- Interstitial Lung Disease
History Filter Activity
21 Jun 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: foxc2 has been classified as Red List (Low Evidence).
21 Jun 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FOXC2 was added gene: FOXC2 was added to Congenital diaphragmatic hernia. Sources: Literature Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXC2 were set to 33461977; 27663689 Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome, MIM# 153400 Review for gene: FOXC2 was set to RED