Unexplained young onset end-stage renal disease
Gene: PBX1
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Comment on list classification: After review of the literature and clinical input, we have decided that this gene has sufficient evidence to be upgraded to 'Green' - high evidence.Created: 13 Sep 2017, 6:57 a.m.
Comment on publications: In 28566479, paper highlights 5 denovo heterozygous mutations in individuals displaying CAKUT phenotypes, including 3 PBX1 variants and 2 deletions.Created: 12 Sep 2017, 12:37 p.m.
Comment on publications: There are two papers describing a link between a variant or deletion in this gene and CAKUT like phenotypes. In 28270404, deletions encompassing PBX1 (and in 2 cases deletions of PBX1 only) are described.Created: 12 Sep 2017, 12:23 p.m.
OMIM: 176310Created: 5 Sep 2017, 12:57 p.m.
Mode of inheritance
Unknown
Phenotypes
CAKUT
gene: PBX1 was added gene: PBX1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PBX1 were set to 28270404; 28566479 Phenotypes for gene: PBX1 were set to CAKUT