Disorders of sex development

Gene: PBX1

Amber List (moderate evidence)

PBX1 (PBX homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000185630
EnsemblGeneIds (GRCh37): ENSG00000185630
OMIM: 176310, Gene2Phenotype
PBX1 is in 8 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. As there is currently not enough evidence to support a gene-disease association, this gene has been given an Amber rating.
Created: 1 Mar 2021, 1:11 p.m. | Last Modified: 1 Mar 2021, 1:11 p.m.
Panel Version: 2.19

Zornitza Stark (Australian Genomics)

I don't know

Two individuals reported with mono allelic variants in this gene and 46,XY gonadal dysgenesis.
Sources: Literature
Created: 9 Jun 2020, 10:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
46, XY gonadal dysgenesis

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • 46, XY gonadal dysgenesis
  • 46,XY partial gonadal dysgenesis, MONDO:0016674
Tags
watchlist
OMIM
176310
Clinvar variants
Variants in PBX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PBX1 were changed from 46, XY gonadal dysgenesis to 46, XY gonadal dysgenesis; 46,XY partial gonadal dysgenesis, MONDO:0016674

1 Mar 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: PBX1.

1 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pbx1 has been classified as Amber List (Moderate Evidence).

9 Jun 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PBX1 was added gene: PBX1 was added to Disorders of sex development. Sources: Literature Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PBX1 were set to 31302614; 31058389 Phenotypes for gene: PBX1 were set to 46, XY gonadal dysgenesis Review for gene: PBX1 was set to AMBER