Deafness_IsolatedAndComplex
Gene: PBX1EnsemblGeneIds (GRCh38): ENSG00000185630
EnsemblGeneIds (GRCh37): ENSG00000185630
OMIM: 176310, Gene2Phenotype
PBX1 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Pleiotropic disorder, deafness and ear abnormalities are a common manifestation.Created: 28 Jan 2020, 10:39 p.m. | Last Modified: 28 Jan 2020, 10:39 p.m.
Panel Version: 0.243
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, MIM# 617641
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Deafness Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pbx1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PBX1 were changed from to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PBX1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PBX1 was added gene: PBX1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: PBX1 was set to Unknown