Nephrocalcinosis or nephrolithiasisGene: AP2S1
Associated with low calcium excretion
Created: 30 Oct 2019, 11:59 a.m. | Last Modified: 30 Oct 2019, 11:59 a.m.
Panel Version: 1.23
Not usually causing stones/n-calc
Created: 1 Nov 2015, 7:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
amilial hypocalciuric hypercalcemia type III
This gene has been classified as Red List (Low Evidence).
Phenotypes for AP2S1 were set to Hypocalciuric hypercalcemia, familial, type III, 600740; Familial hypocalciuric hypercalcemia type III
Mode of inheritance for AP2S1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
AP2S1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen