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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 | TMEM260 | Zornitza Stark Marked gene: TMEM260 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 | TMEM260 | Zornitza Stark Gene: tmem260 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 | TMEM260 | Zornitza Stark Marked gene: TMEM260 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 | TMEM260 | Zornitza Stark Gene: tmem260 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 | TMEM260 |
Zornitza Stark changed review comment from: Seven unrelated families reported. Sources: Expert Review; to: Seven unrelated families reported. Clinical features: ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse-shoe kidneys (1/12) and renal cysts (1/12) in patients. Sources: Expert Review |
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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 | TMEM260 | Zornitza Stark Publications for gene: TMEM260 were set to 28318500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.97 | TMEM260 | Zornitza Stark Classified gene: TMEM260 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.97 | TMEM260 | Zornitza Stark Gene: tmem260 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.96 | TMEM260 |
Zornitza Stark changed review comment from: Two unrelated families reported. Sources: Expert Review; to: Seven unrelated families reported. Sources: Expert Review |
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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.96 | TMEM260 | Zornitza Stark edited their review of gene: TMEM260: Changed rating: GREEN; Changed publications: 28318500, 34612517 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.96 | TMEM260 |
Zornitza Stark gene: TMEM260 was added gene: TMEM260 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM260 were set to 28318500 Phenotypes for gene: TMEM260 were set to Structural heart defects and renal anomalies syndrome, MIM# 617478 Review for gene: TMEM260 was set to AMBER Added comment: Two unrelated families reported. Sources: Expert Review |