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Unexplained young onset end-stage renal disease - additional genes

Gene: PBX1

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.
Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 25 Sep 2024, 9:36 p.m.
Last Modified: 25 Sep 2024, 9:36 p.m.
Panel version: 0.65

Eleanor Williams (Genomics England Curator)

I don't know

Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Green
Created: 9 Apr 2019, 11:17 a.m.
Created: 9 Apr 2019, 11:17 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.4

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.

Copied from panel: Unexplained young onset end-stage renal disease v5.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641
OMIM
176310
Clinvar variants
Variants in PBX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: PBX1 were changed from CAKUT to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641

27 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Added phenotypes CAKUT for gene: PBX1

25 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PBX1 was added gene: PBX1 was added to Unexplained young onset end-stage renal disease - additional genes. 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