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| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.129 | ROBO1 | Zornitza Stark Phenotypes for gene: ROBO1 were changed from Syndromic disease, MONDO:0002254; CAKUT to Neurooculorenal syndrome, MIM# 620305 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.128 | ROBO1 | Zornitza Stark edited their review of gene: ROBO1: Changed phenotypes: Neurooculorenal syndrome, MIM# 620305 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.107 | ROBO1 | Zornitza Stark Phenotypes for gene: ROBO1 were changed from CAKUT to Syndromic disease, MONDO:0002254; CAKUT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.106 | ROBO1 | Zornitza Stark Marked gene: ROBO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.106 | ROBO1 | Zornitza Stark Gene: robo1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.106 | ROBO1 | Zornitza Stark Classified gene: ROBO1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.106 | ROBO1 | Zornitza Stark Gene: robo1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.105 | ROBO1 |
Lucy Spencer gene: ROBO1 was added gene: ROBO1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature Mode of inheritance for gene: ROBO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROBO1 were set to PMID: 35227688 Phenotypes for gene: ROBO1 were set to CAKUT Review for gene: ROBO1 was set to GREEN Added comment: Six unrelated individuals with biallelic truncating or combined missense and truncating variants in ROBO1. Also another family with three affected fetal cases who also had biallelic ROBO1 variants. Pregnancies terminated at 17, 22 and 26 weeks due to a mix i symptoms including anamnios, kidney agenesis associated with ventriculomegaly, polycystic kidneys, and heart defects. Dysmorphic features were also found on fetal examination. Kidney and genitourinary manifestations in other patients included unilateral or bilateral kidney agenesis, vesicoureteral junction obstruction, vesicoureteral reflux, posterior urethral valve, genital malformation, and increased kidney echogenicity Sources: Literature |
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