CAKUT
Gene: FOXD2
FOXD2 (forkhead box D2)
EnsemblGeneIds (GRCh38): ENSG00000186564
EnsemblGeneIds (GRCh37): ENSG00000186564
OMIM: 602211, Gene2Phenotype
FOXD2 is in 1 panel
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: OtherCreated: 7 Jun 2020, 3:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Other
- Tags
- OMIM
- 602211
- Clinvar variants
- Variants in FOXD2
- Penetrance
- None
- 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