| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.209 | TNXB | Zornitza Stark Marked gene: TNXB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.209 | TNXB | Zornitza Stark Gene: tnxb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.209 | TNXB | Zornitza Stark Publications for gene: TNXB were set to 23620400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.208 | TNXB | Zornitza Stark Classified gene: TNXB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.208 | TNXB | Zornitza Stark Gene: tnxb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.207 | TNXB |
Zornitza Stark edited their review of gene: TNXB: Added comment: PMID 26408188: 6 additional individuals from 3 families with rare missense variants. De novo in one family. PMID 34059960: 3 unrelated individuals, two with LoF variants, one with missense, identified in a large cohort. PMID 36995132: five individuals, again from a large cohort presenting with obstructive uropathy, three with LoF variant and one with missense; 5th individual compound het for LoF variants. PMID 38370350: single compound het individual reported. MODERATE by ClinGen. Lack of segregation and other experimental data to support association, most of the data comes from observations in large cohorts of individuals with VUR/obstructive uropathy.; Changed rating: AMBER; Changed publications: 23620400, 26408188, 34059960, 38370350, 36995132 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.198 | Bryony Thompson Copied gene TNXB from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.198 | TNXB |
Bryony Thompson gene: TNXB was added gene: TNXB was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services Mode of inheritance for gene: TNXB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNXB were set to 23620400 Phenotypes for gene: TNXB were set to Vesicoureteral reflux 8, MIM# 615963 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||