Renal tubulopathies

Gene: AP2S1

Green List (high evidence)

Comment on list classification: Sufficient cases to rate green.

Created: 4 Sep 2019, 3:38 p.m. | Last Modified: 4 Sep 2019, 3:38 p.m.

Panel Version: 1.87

Associated with Hypocalciuric hypercalcemia, type III (#600740) in OMIM.

PMID: 23222959 - Nesbit et al 2013 - in 2 unrelated 3-generation families segregating autosomal dominant hypocalciuric hypercalcemia they identified a heterozygous missense mutation in the AP2S1 gene (R15C). DNA sequence analysis of the 5 exons and 8 intron-exon boundaries of AP2S1 of a further 50 unrelated patients in whom CaSR mutations had been excluded, found a further 11 probands from 10 families, with missense heterozygous mutations, consistent with autosomal dominant inheritance of familial hypocalciuric hypercalcemia type 3, that all affected Arg15.

Created: 29 Aug 2019, 3:57 p.m. | Last Modified: 29 Aug 2019, 3:57 p.m.

Panel Version: 1.82

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: AP2S1; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided

Created: 3 Feb 2019, 11:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Familial hypocalciuric hypercalcemia type III MIM 600740

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