CAKUT
Gene: PBX1

PBX1 (PBX homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000185630
EnsemblGeneIds (GRCh37): ENSG00000185630
OMIM: 176310, Gene2Phenotype
PBX1 is in 7 panels

1 review

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

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: 176310
Created: 5 Sep 2017, 12:57 p.m.

Mode of inheritance
Unknown

Phenotypes
CAKUT

Created: 5 Sep 2017, 12:57 p.m.

Panel version: 1.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Other

Phenotypes

CAKUT

Tags

deletions

OMIM

176310

Clinvar variants

Variants in PBX1

Penetrance

Complete

Publications

Panels with this gene