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  2. Renal and urinary tract disorders
  3. PBX1
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Renal and urinary tract disorders

Gene: PBX1

Green List (high evidence)
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: Imported from CAKUT panel version 1.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • CAKUT
OMIM
176310
Clinvar variants
Variants in PBX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Olivia Niblock: OMIM: 176310

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PBX1 was added gene: PBX1 was added to Renal and urinary tract disorders. 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 28566479; 28270404 Phenotypes for gene: PBX1 were set to CAKUT