Hypertension and Aldosterone disorders
Gene: USP33
USP33 (ubiquitin specific peptidase 33)
EnsemblGeneIds (GRCh38): ENSG00000077254
EnsemblGeneIds (GRCh37): ENSG00000077254
OMIM: 615146, Gene2Phenotype
USP33 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000077254
EnsemblGeneIds (GRCh37): ENSG00000077254
OMIM: 615146, Gene2Phenotype
USP33 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Posterior probability association (PPA) 0.977 for extreme early-onset hypertension under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 182 early-onset hypertension cases and 55,305 controls used in BeviMed analysis. 2 splice site variants enriched in a renal and urinary tract disorders cohort (n=6).
Sources: LiteratureCreated: 3 Dec 2024, 11:08 p.m. | Last Modified: 4 Dec 2024, 12:28 a.m.
Panel Version: 1.15
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal hypertension MONDO:0001105
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Renal hypertension MONDO:0001105
- OMIM
- 615146
- Clinvar variants
- Variants in USP33
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
3 Dec 2024, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: usp33 has been classified as Red List (Low Evidence).
3 Dec 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: USP33 was added gene: USP33 was added to Hypertension and Aldosterone disorders. Sources: Literature Mode of inheritance for gene: USP33 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: USP33 were set to 36928819 Phenotypes for gene: USP33 were set to Renal hypertension MONDO:0001105 Review for gene: USP33 was set to AMBER