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  2. Renal Tubulopathies and related disorders
  3. KL
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Renal Tubulopathies and related disorders

Gene: KL

Amber List (moderate evidence)
KL (klotho)
EnsemblGeneIds (GRCh38): ENSG00000133116
EnsemblGeneIds (GRCh37): ENSG00000133116
OMIM: 604824, Gene2Phenotype
KL is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

1 case reported with tumoral calcinosis and a homozygous missense, and 1 adult case reported with chronic kidney disease and hyperphosphatemia and a heterozygous frameshift variant. Also, supporting null mouse model.
Created: 5 Feb 2021, 3:09 a.m. | Last Modified: 5 Feb 2021, 3:09 a.m.
Panel Version: 0.20

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994; Hyperphosphatemia

Publications

Created: 5 Feb 2021, 3:09 a.m.
Last Modified: 5 Feb 2021, 3:09 a.m.
Panel version: Imported from Calcium and Phosphate disorders panel version 0.20

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • KidGen_CalcPhos v38.1.0
  • Expert Review Amber
Phenotypes
  • Hyperphosphatemia
  • Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994
OMIM
604824
Clinvar variants
Variants in KL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KL was added gene: KL was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Amber Mode of inheritance for gene: KL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: KL were set to 17710231; 31013726; 9363890 Phenotypes for gene: KL were set to Hyperphosphatemia; Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994