Groopman et al 2019 - Genes with diagnostic variants

Gene: KLHL3

Red List (low evidence)

KLHL3 (kelch like family member 3)
EnsemblGeneIds (GRCh38): ENSG00000146021
EnsemblGeneIds (GRCh37): ENSG00000146021
OMIM: 605775, Gene2Phenotype
KLHL3 is in 3 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: KLHL3; Inheritance: AD; Clinical diagnosis: Other; Genetic diagnosis: Pseudohypoaldosteronism type IID; OMIM phenotype MIM No.: 614495; Number of cases: 1
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert review red
  • Literature
Phenotypes
  • Other
  • MIM 614495
  • Pseudohypoaldosteronism type IID
OMIM
605775
Clinvar variants
Variants in KLHL3
Penetrance
None
Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to KLHL3.

2 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: KLHL3 was added gene: KLHL3 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: KLHL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KLHL3 were set to Other; MIM 614495; Pseudohypoaldosteronism type IID