Extreme early-onset hypertension

Gene: CUL3

Green List (high evidence)

CUL3 (cullin 3)
EnsemblGeneIds (GRCh38): ENSG00000036257
EnsemblGeneIds (GRCh37): ENSG00000036257
OMIM: 603136, Gene2Phenotype
CUL3 is in 6 panels

2 reviews

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

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

3 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 03/08/2016

6 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CUL3 were set to Pseudohypoaldosteronism, type IIE, 614496

6 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jun 2016, Gel status: 3

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

6 Jun 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene CUL3 were set to Pseudohypoaldosteronism, type IIE, 614496

6 Jun 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CUL3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Jun 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene CUL3 were set to Pseudohypoaldosteronism, type IIE, 614496

8 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

CUL3 was added to Extreme early-onset hypertensionpanel. Sources: Expert