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| CAKUT v1.133 | TBC1D1 | Catherine Snow Classified gene: TBC1D1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.133 | TBC1D1 | Catherine Snow Added comment: Comment on list classification: Functional work in mouse and one paper with four unrelated individuals with pedigree analysis show evidence for a role of TBC1D1 variants in CAKUT pathogenesis. Although only identified in PMID: 26572137 paper sufficient evidence to rate TBC1D1 as Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.133 | TBC1D1 | Catherine Snow Gene: tbc1d1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.41 | TBC1D1 |
chirag patel gene: TBC1D1 was added gene: TBC1D1 was added to CAKUT. Sources: Literature Mode of inheritance for gene: TBC1D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBC1D1 were set to PMID: 26572137 Phenotypes for gene: TBC1D1 were set to CAKUT Review for gene: TBC1D1 was set to GREEN Added comment: 1 heterozygous de novo frameshift variant in TBC1D1 in 1 CAKUT. 3 further CAKUT cases with three novel or rare inherited heterozygous TBC1D1 missense variants predicted to be pathogenic. TBC1D1 mutations affected Ser237-phosphorylation or protein stability and thereby act as hypomorphs. Tbc1d1 showed widespread expression in the developing murine urogenital system. A mild CAKUT spectrum phenotype, including anomalies observed in patients carrying TBC1D1 mutations, was found in kidneys of some Tbc1d1 (-/-) mice. Significantly reduced Glut4 levels were detected in kidneys of Tbc1d1 (-/-) mice and the dysplastic kidney of a TBC1D1 mutation carrier versus controls. TBC1D1 and SLC2A4 encoding GLUT4 were highly expressed in human fetal kidney. These data demonstrate heterozygous deactivating TBC1D1 mutations in CAKUT patients with a similar renal and ureteral phenotype, and provide evidence that TBC1D1 mutations may contribute to CAKUT pathogenesis, possibly via a role in glucose homeostasis. Sources: Literature |
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