Disorders of sex development
Gene: PBX1Comment 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
Two individuals reported with mono allelic variants in this gene and 46,XY gonadal dysgenesis.
Sources: LiteratureCreated: 9 Jun 2020, 10:47 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
46, XY gonadal dysgenesis
Publications
Phenotypes for gene: PBX1 were changed from 46, XY gonadal dysgenesis to 46, XY gonadal dysgenesis; 46,XY partial gonadal dysgenesis, MONDO:0016674
Tag watchlist tag was added to gene: PBX1.
Gene: pbx1 has been classified as Amber List (Moderate Evidence).
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