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DDG2P

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)

The DDG2P confidence category for the disease PBX1-related developmental disorder (monoallelic) is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID:35451537).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
PBX1-related developmental disorder (monoallelic)

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changing the status to Expert Review Removed, as the content of the panel is only changed when updated from DDG2P sources. The status of this gene on other panels has been checked.
Created: 7 Dec 2021, 3:12 p.m. | Last Modified: 7 Dec 2021, 3:12 p.m.
Panel Version: 2.55
This gene is already green on the Intellectual disability panel and has been suggested for promotion to green on the Fetal anomaly and hearing loss panels.
Created: 7 Dec 2021, 3:10 p.m. | Last Modified: 7 Dec 2021, 3:10 p.m.
Panel Version: 2.53
Created: 7 Dec 2021, 3:10 p.m.
Last Modified: 7 Dec 2021, 3:10 p.m.
Panel version: 2.53

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

Syndromic gene. Most of the individuals present with developmental delay, according to OMIM.
Sources: Literature
Created: 30 Nov 2021, 12:52 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay

Created: 30 Nov 2021, 12:52 p.m.

Panel version: 2.53

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PBX1-related developmental disorder (monoallelic)
  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
OMIM
176310
Clinvar variants
Variants in PBX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Feb 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag curated_removed was removed from gene: PBX1.

4 Oct 2023, Gel status: 3

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to PBX1. Source DD-Gene2Phenotype was added to PBX1. Mode of inheritance for gene PBX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes PBX1-related developmental disorder (monoallelic) for gene: PBX1 Publications for gene: PBX1 were updated from to 35451537 Rating Changed from No List (delete) to Green List (high evidence)

7 Dec 2021, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pbx1 has been removed from the panel.

7 Dec 2021, Gel status: 0

Added Tag

Eleanor Williams (Genomics England Curator)

Tag curated_removed tag was added to gene: PBX1.

7 Dec 2021, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pbx1 has been removed from the panel.

30 Nov 2021, Gel status: 0

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

Dmitrijs Rots (Children's Clinical University Hospital)

gene: PBX1 was added gene: PBX1 was added to DDG2P. Sources: Literature Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Review for gene: PBX1 was set to GREEN