Gene: FOXD2

Red List (low evidence)

FOXD2 (forkhead box D2)
EnsemblGeneIds (GRCh38): ENSG00000186564
EnsemblGeneIds (GRCh37): ENSG00000186564
OMIM: 602211, Gene2Phenotype
FOXD2 is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

Conference presentation/abstract ESGH 2020 - Implication of FOXD2 in autosomal recessive syndromic CAKUT Korbinian M. Riedhammer Report index patient with CAKUT with a homozygous frameshift variant in FOXD2 NM_004474.3:c.789dup, p.(Gly264Argfs*228). The patient presented with bilateral hypoplastic kidneys, facial dysmorphism, developmental delay. Another affected family member was found to have the same variant. FOXD2 is a transcription factor with strong expression in the developing kidney. Foxd2-/- mice can show a CAKUT phenotype. No publications in PubMed relating to this data are currently found.
Sources: Other
Created: 7 Jun 2020, 3:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Other
Clinvar variants
Variants in FOXD2
Panels with this gene

History Filter Activity

23 Jun 2020, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist tag was added to gene: FOXD2.

7 Jun 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: FOXD2 was added gene: FOXD2 was added to CAKUT. Sources: Other Mode of inheritance for gene: FOXD2 was set to BIALLELIC, autosomal or pseudoautosomal