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  3. KL
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Calcium and Phosphate 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: 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
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994
  • Hyperphosphatemia
OMIM
604824
Clinvar variants
Variants in KL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kl has been classified as Amber List (Moderate Evidence).

5 Feb 2021, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: KL were set to

5 Feb 2021, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: KL were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994; Hyperphosphatemia

5 Feb 2021, Gel status: 2

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: KL was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

5 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kl has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KL was added gene: KL was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: KL was set to Unknown