CAKUT
Gene: ROBO1Comment on list classification: New gene added to this panel by Laura Claus (UMC). Rating Green as there is enough evidence to support the gene-disease association. Included on the R27 Paediatric disorders GMS panel via inclusion on the R29 Intellectual disability panel.
Biallelic variants in the ROBO1 gene are associated with neurooculorenal syndrome (OMIM:620305). Clinical manifestations are generally highly variable and involve several organ systems which may be include a syndromic form of congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 35227688)Created: 20 Mar 2024, 2:05 p.m. | Last Modified: 20 Mar 2024, 2:05 p.m.
Panel Version: 1.174
Sources: LiteratureCreated: 10 Jun 2022, 8:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
unilateral kidney agenesis; bilateral kidney agenesis; vesicoureteral junction obstruction; vesicoureteral reflux; posterior urethral valve; genital malformation; increased kidney echogenicity
Publications
Phenotypes for gene: ROBO1 were changed from unilateral kidney agenesis; bilateral kidney agenesis; vesicoureteral junction obstruction; vesicoureteral reflux; posterior urethral valve; genital malformation; increased kidney echogenicity to Neurooculorenal syndrome, OMIM:620305
Gene: robo1 has been classified as Green List (High Evidence).
gene: ROBO1 was added gene: ROBO1 was added to CAKUT. Sources: Literature Mode of inheritance for gene: ROBO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROBO1 were set to 35227688 Phenotypes for gene: ROBO1 were set to unilateral kidney agenesis; bilateral kidney agenesis; vesicoureteral junction obstruction; vesicoureteral reflux; posterior urethral valve; genital malformation; increased kidney echogenicity Review for gene: ROBO1 was set to GREEN