Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.115 | TBC1D31 | Zornitza Stark Marked gene: TBC1D31 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.115 | TBC1D31 | Zornitza Stark Gene: tbc1d31 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.115 | TBC1D31 |
Zornitza Stark gene: TBC1D31 was added gene: TBC1D31 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Literature Mode of inheritance for gene: TBC1D31 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D31 were set to 37468454 Phenotypes for gene: TBC1D31 were set to congenital anomaly of kidney and urinary tract MONDO:0019719, TBC1D31-related Review for gene: TBC1D31 was set to RED Added comment: Single paper with homozygous mutations in 3 sibs with CAKUT from consanguineous family Sources: Literature |