Hydrops fetalis
Gene: FOXC2EnsemblGeneIds (GRCh38): ENSG00000176692
EnsemblGeneIds (GRCh37): ENSG00000176692
OMIM: 602402, Gene2Phenotype
FOXC2 is in 15 panels
1 review
Abhijit Kulkarni (Healius Pathology)
Nonimmune hydrops fetalis or antenatal hydrothoraces have been reported as a rare complication of Lymphedema-Distichiasis Syndrome (LDS MIM:153400). Hydrops fetalis can be caused by lymphatic abnormalities [PMID:25712632]. If the fetus or neonate survives, the hydrops may resolve completely. It has been suggested that the hydrops and respiratory failure may be due to severe pulmonary lymphangiectasia [PMID:25252123,21918810].Created: 10 Apr 2022, 11:59 p.m. | Last Modified: 10 Apr 2022, 11:59 p.m.
Panel Version: 0.245
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 Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Lymphoedema-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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: foxc2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FOXC2 were changed from to Lymphoedema-distichiasis syndrome, MIM:153400
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FOXC2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FOXC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FOXC2 was added gene: FOXC2 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FOXC2 was set to Unknown