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Newborns main panel

Gene: KLHL3

Green List (high evidence)
KLHL3 (kelch like family member 3)
EnsemblGeneIds (GRCh38): ENSG00000146021
EnsemblGeneIds (GRCh37): ENSG00000146021
OMIM: 605775, Gene2Phenotype
KLHL3 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Multiple MOIs for the same phenotype included.

Additional Information: AD and AR forms of Pseudohypoaldosteronism are included.
Created: 26 Sep 2024, 3:46 p.m. | Last Modified: 18 Nov 2025, 3:30 p.m.
Panel Version: 0.480
Created: 26 Sep 2024, 3:46 p.m.
Last Modified: 18 Nov 2025, 3:30 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 34622103 - 50 KLHL3 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pseudohypoaldosteronism, type IID, autosomal recessive
Tags
special_consideration
OMIM
605775
Clinvar variants
Variants in KLHL3
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: KLHL3.

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: KLHL3 were changed from Pseudohypoaldosteronism, type IID to Pseudohypoaldosteronism, type IID, autosomal recessive

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Pseudohypoaldosteronism, type IID for gene: KLHL3

5 Jul 2023, Gel status: 3

Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene KLHL3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Pseudohypoaldosteronism, type IID for gene: KLHL3

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to KLHL3. Added phenotypes Pseudohypoaldosteronism, type IID for gene: KLHL3 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to KLHL3. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Pseudohypoaldosteronism, type IID for gene: KLHL3

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: KLHL3 was added gene: KLHL3 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: KLHL3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal