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FOXD1

Synonyms
FKHL8, FREAC-4, FREAC4
External resources
Summary
This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. Studies of the orthologous mouse protein indicate that it functions in kidney development by promoting nephron progenitor differentiation, and it also functions in the development of the retina and optic chiasm. It may also regulate inflammatory reactions and prevent autoimmunity.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,980
Likely benign
640
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on FOXD1 gene.

Phenotype class
Patients in 3billion (%)

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