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| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.126 | ARID3A | Zornitza Stark Marked gene: ARID3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.126 | ARID3A | Zornitza Stark Gene: arid3a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.126 | ARID3A | Zornitza Stark Classified gene: ARID3A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.126 | ARID3A | Zornitza Stark Gene: arid3a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.125 | ARID3A |
Rylee Peters gene: ARID3A was added gene: ARID3A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Literature Mode of inheritance for gene: ARID3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARID3A were set to 40774958 Phenotypes for gene: ARID3A were set to Congenital anomaly of kidney and urinary tract, MONDO:0019719, ARID3A-related Review for gene: ARID3A was set to AMBER Added comment: PMID: 40774958: 7x individuals from a CAKUT cohort - 5 individuals with unilateral renal agenesis and two individuals with hydronephrosis, extra-renal anomalies were also identified. Variants identified include 3x stopgain, 1xframeshift, 3x splice site – inheritance includes 2x de novo, 4x unknown inheritance, 1x maternally inherited (unknown clinical status). Sources: Literature |
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