Extreme early-onset hypertension
Gene: CUL3EnsemblGeneIds (GRCh38): ENSG00000036257
EnsemblGeneIds (GRCh37): ENSG00000036257
OMIM: 603136, Gene2Phenotype
CUL3 is in 6 panels
2 reviews
Fiona Karet (Universit y of Cambridge)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 3/4 sources. One reviewer recommends Green.Created: 6 Jun 2016, 12:22 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Literature
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert
- Phenotypes
-
- Pseudohypoaldosteronism, type IIE, 614496
- OMIM
- 603136
- Clinvar variants
- Variants in CUL3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted 03/08/2016
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CUL3 were set to Pseudohypoaldosteronism, type IIE, 614496
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)CUL3 was added to Extreme early-onset hypertensionpanel. Sources: Literature,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene CUL3 were set to Pseudohypoaldosteronism, type IIE, 614496
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for CUL3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene CUL3 were set to Pseudohypoaldosteronism, type IIE, 614496
Added New Source
Eik Haraldsdottir (Genomics England)CUL3 was added to Extreme early-onset hypertensionpanel. Sources: Expert