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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.18 | SOX11 | Zornitza Stark Marked gene: SOX11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.18 | SOX11 | Zornitza Stark Gene: sox11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.18 | SOX11 | Zornitza Stark Classified gene: SOX11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.18 | SOX11 | Zornitza Stark Gene: sox11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.17 | SOX11 |
Zornitza Stark gene: SOX11 was added gene: SOX11 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert list Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX11 were set to 29459093; 24886874 Phenotypes for gene: SOX11 were set to Congenital abnormalities of the kidneys and urinary tract Review for gene: SOX11 was set to AMBER Added comment: Heterozygous variant in a patient with Coffin-Siris like syndrome and small kidney; but also rare variants identified in a non-syndromic CAKUT cohort with some functional data. Sources: Expert list |