FOXC2 Chromosome 16

Forkhead box C2
51 variants 51 Health Risk

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What This Gene Does
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of mesenchymal tissues. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Forkhead boxes
Locus Type
gene with protein product
Location
16q24.1
Ensembl
ENSG00000176692
Associated Conditions (5)
Distichiasis-lymphedema syndrome
Inborn genetic diseases
FOXC2-related disorder
Non-immune hydrops fetalis
LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS
Key Variants
RS138612549
Conflicting classifications of pathogenicity
Distichiasis-lymphedema syndrome, Inborn genetic diseases, Distichiasis-lymphedema syndrome
Health Risk
RS145316350
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147258453
Conflicting classifications of pathogenicity
Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
Health Risk
RS200483763
Conflicting classifications of pathogenicity
FOXC2-related disorder, Inborn genetic diseases, FOXC2-related disorder
Health Risk
RS201456476
Conflicting classifications of pathogenicity
Distichiasis-lymphedema syndrome, Inborn genetic diseases, Distichiasis-lymphedema syndrome
Health Risk
RS764469563
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS121909106
Likely pathogenic
Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
Health Risk
RS1223233551
Likely pathogenic
Non-immune hydrops fetalis, Non-immune hydrops fetalis
Health Risk
RS1555531387
Likely pathogenic
Health Risk
RS1597402771
Likely pathogenic
Health Risk
RS1597402936
Likely pathogenic
Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
Health Risk
RS1974216738
Likely pathogenic
Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
Health Risk
All Variants (51)
RSID Category Clinical Significance Conditions
RS1567571184 Health Risk Pathogenic/Likely pathogenic Distichiasis-lymphedema syndrome, Inborn genetic diseases, Distichiasis-lymphedema syndrome
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