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| CAKUT v1.152 | FOXD2 | Eleanor Williams Tag watchlist tag was added to gene: FOXD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.152 | FOXD2 |
Eleanor Williams 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 Added comment: 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 |
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