1. Panels
  2. Newborns main panel
  3. KL
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: KL

Red List (low evidence)
KL (klotho)
EnsemblGeneIds (GRCh38): ENSG00000133116
EnsemblGeneIds (GRCh37): ENSG00000133116
OMIM: 604824, Gene2Phenotype
KL is in 1 panel

1 review

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: 17710231 (1 case) PMID: 33977199 (1 case with chromosome 13 triplication presumed to impact KL expression)
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 Red
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial, 3
OMIM
604824
Clinvar variants
Variants in KL
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to KL. Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 3 for gene: KL Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to KL. Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 3 for gene: KL Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

6 Jun 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: KL were changed from Maturity-onset diabetes of the young, type VII to Tumoral calcinosis, hyperphosphatemic, familial, 3

1 Jun 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: KL were changed from ?Tumoral calcinosis, hyperphosphatemic, familial, 3; Tumoral calcinosis, hyperphosphatemic, familial, 3 to Maturity-onset diabetes of the young, type VII

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to KL. Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 3 for gene: KL Rating Changed from No List (delete) to Red List (low evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to KL. Rating Changed from Red List (low evidence) to No List (delete)

9 Mar 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes ?Tumoral calcinosis, hyperphosphatemic, familial, 3 for gene: KL

9 Mar 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: KL was added gene: KL was added to Newborns main panel. Sources: Expert Review Red Mode of inheritance for gene: KL was set to BIALLELIC, autosomal or pseudoautosomal