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  3. KL
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Familial tumoral calcinosis

Gene: KL

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

1 review

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Red List (low evidence)

We have not identified any variants in this gene in our laboratory
Created: 16 Jan 2019, 10:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tumoral calcinosis, hyperphosphatemic, familial, 3 617994

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2019, 10:44 a.m.

Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial, 3, OMIM:617994
OMIM
604824
Clinvar variants
Variants in KL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: KL were changed from Tumoral calcinosis, hyperphosphatemic, familial, 3 617994 to Tumoral calcinosis, hyperphosphatemic, familial, 3, OMIM:617994

16 Jan 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

16 Jan 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: KL was added gene: KL was added to Familial tumoral calcinosis. Sources: NHS GMS Mode of inheritance for gene: KL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KL were set to 17710231