Eye Anterior Segment Abnormalities
Gene: FOXC2EnsemblGeneIds (GRCh38): ENSG00000176692
EnsemblGeneIds (GRCh37): ENSG00000176692
OMIM: 602402, Gene2Phenotype
FOXC2 is in 15 panels
1 review
Chris Richmond (Genetic Health Queensland)
Ocular examination of patients with lymphedema-distichiasis syndrome and mutations in FOXC2, another member of the forkhead family, identified mild ASD, including partial iris hypoplasia, corectopia, reduced corneal diameter, and localized corneal opacification, in those with mutations within the forkhead domain (PMID: 21730847). No subsequent studies have investigated the role of FOXC2 in anterior segment dysgenesis.
Sources: LiteratureCreated: 9 Jan 2020, 3:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lymphedema-distichiasis syndrome 153400
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Lymphedema-distichiasis syndrome 153400
- OMIM
- 602402
- Clinvar variants
- Variants in FOXC2
- Penetrance
- unknown
- 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).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: foxc2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Chris Richmond (Genetic Health Queensland)gene: FOXC2 was added gene: FOXC2 was added to Eye Anterior Segment Abnormalities_VCGS. Sources: Literature Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXC2 were set to 12766066; 21730847 Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome 153400 Penetrance for gene: FOXC2 were set to unknown Review for gene: FOXC2 was set to GREEN