KL:Ensemblv90

klotho
OMIM: 604824, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber KL in Mendeliome Version 1.3802	1 review	Unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994 Hyperphosphatemia
Amber KL in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.29	1 review	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
Amber KL in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.22 Component of the following Super Panels: Kidneyome_SuperPanel	1 review	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
Amber KL in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 2.0	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources KidGen_CalcPhos v38.1.0 Expert Review Amber Phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994 Hyperphosphatemia
Amber KL in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 2.0	1 review	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