Unpublished study shows heterozygous TSHZ3 whole gene or intragenic deletions in patients with renal tract malformations. In mice, published studies clearly show biallelic null mutations cause congenital hyronephrosis.
Created: 22 Apr 2016, 11:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for TSHZ3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TSHZ3 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Expert list