Calcium and Phosphate disorders
Gene: KL
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
Gene: kl has been classified as Amber List (Moderate Evidence).
Publications for gene: KL were set to
Phenotypes for gene: KL were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994; Hyperphosphatemia
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
Gene: kl has been classified as Amber List (Moderate Evidence).
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