Differences of Sex Development
Gene: PBX1EnsemblGeneIds (GRCh38): ENSG00000185630
EnsemblGeneIds (GRCh37): ENSG00000185630
OMIM: 176310, Gene2Phenotype
PBX1 is in 10 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Sexual development defects (DSDs) are mainly reported in association with pathogenic missense variants in the gene. There have been at least 10 individuals reported with missense variants in this gene and DSD as a feature of the phenotype.Created: 1 Jul 2022, 1:28 a.m. | Last Modified: 1 Jul 2022, 1:28 a.m.
Panel Version: 0.262
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 MONDO:0060549
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two individuals reported with mono allelic variants in this gene and 46,XY gonadal dysgenesis.
Sources: LiteratureCreated: 18 Dec 2019, 7:36 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 Green
- Literature
- Phenotypes
-
- 46, XY gonadal dysgenesis
- congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay MONDO:0060549
- OMIM
- 176310
- Clinvar variants
- Variants in PBX1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Fetal anomalies
- Congenital Heart Defect
- Optic Atrophy
- Mendeliome
- Congenital diaphragmatic hernia
- Mandibulofacial Acrofacial dysostosis
- Intellectual disability syndromic and non-syndromic
- Differences of Sex Development
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
History Filter Activity
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: PBX1 were changed from 46, XY gonadal dysgenesis to 46, XY gonadal dysgenesis; congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay MONDO:0060549
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: PBX1 were set to 31302614; 31058389
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pbx1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pbx1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pbx1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PBX1 was added gene: PBX1 was added to Disorders of Sex Differentiation_VCGS. 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