Extreme early-onset hypertension

Gene: KLHL3

Green List (high evidence)

KLHL3 (kelch like family member 3)
EnsemblGeneIds (GRCh38): ENSG00000146021
EnsemblGeneIds (GRCh37): ENSG00000146021
OMIM: 605775, Gene2Phenotype
KLHL3 is in 3 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. Numerous variants reported.
Created: 7 Jun 2016, 8:59 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pseudohypoaldosteronism, type IID, 614495
OMIM
605775
Clinvar variants
Variants in KLHL3
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

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

Set publications

Sarah Leigh (Genomics England Curator)

Publications for KLHL3 were set to 22266938; 22406640

6 Jun 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene KLHL3 were set to Pseudohypoaldosteronism, type IID, 614495

6 Jun 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for KLHL3 were set to 22266938; 22406640

6 Jun 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

KLHL3 was added to Extreme early-onset hypertensionpanel. Sources: Expert list

6 Jun 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

KLHL3 was added to Extreme early-onset hypertensionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen,UKGTN

6 Jun 2016, Gel status: 3

clearsources

Sarah Leigh (Genomics England Curator)

KLHL3All sources for gene: KLHL3 were removed

6 Jun 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for KLHL3 were set to 22266938

6 Jun 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene KLHL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 Jun 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene KLHL3 were set to Pseudohypoaldosteronism, type IID, 614495

6 Jun 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for KLHL3 were set to 22266938

6 Jun 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene KLHL3 were set to Pseudohypoaldosteronism, type IID, 614495

6 Jun 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

KLHL3 was added to Extreme early-onset hypertensionpanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen,UKGTN

6 Jun 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene KLHL3 were set to Pseudohypoaldosteronism, type IID, 614495

8 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

KLHL3 was added to Extreme early-onset hypertensionpanel. Sources: Expert