CAKUT
Gene: PBX1
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
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PBX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
Publications for PBX1 were set to 28566479; 28270404
This gene has been classified as Amber List (Moderate Evidence).
Publications for PBX1 were set to 28566479; 28270404
PBX1 was created by oniblock
PBX1 was added to CAKUTpanel. Sources: Other