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| CAKUT v1.48 | ISL1 |
Rebecca Foulger gene: ISL1 was added gene: ISL1 was added to CAKUT. Sources: Literature Mode of inheritance for gene: ISL1 was set to Unknown Publications for gene: ISL1 were set to 23641053 Phenotypes for gene: ISL1 were set to CAKUT Review for gene: ISL1 was set to RED Added comment: Added ISL1 to panel as a Red gene, based on PMID:23641053 which show that conditional deletion of Isl1 in mice caused kidney agenesis or hypoplasia and hydroureter, a phenotype resembling human congenital anomalies of the kidney and urinary tract (CAKUT). No further literature evidence at this time to increase rating. Sources: Literature |
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| CAKUT v1.43 | BMP4 | Rebecca Foulger commented on gene: BMP4: PMID:23641053 (Kaku et al., 2013). Indirect Animal study. Authors studied renal expression and phenotype of Isl1 in mice. Lack of Isl1 reduced the expression of mouse Bmp4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||