Hypocalciuric hypercalcaemia
Gene: AP2S1Additional evidence from mouse model that is representative for FHH3 in humans:
PMID: 33729479 - Hannan et al 2021 - Created mice with the AP2S1 p.Arg15Leu mutation, which causes the most severe FHH3 phenotype. Heterozygous (Ap2s1+/L15) mice were viable, homozygous mice died perinatally, The heterozygous mice showed hypercalcaemia, hypermagnesaemia, hypophosphataemia. The phenotype can be ameliorated by treatment with cinacalcet.Created: 6 Jul 2021, 10:53 a.m. | Last Modified: 6 Jul 2021, 10:54 a.m.
Panel Version: 2.9
Publications
AP2S1 - to date, specifically variants at codon 15 cause FHH type 3Created: 31 Dec 2018, 3:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
FHH
Publications
Submitted on behalf of Treen Cranston (Oxford): codon 15 should be covered.Created: 31 Jul 2019, 2:16 p.m. | Last Modified: 31 Jul 2019, 2:16 p.m.
Panel Version: 1.2
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 5 Feb 2019, 2:28 p.m.
PMID: 28222959,26082470 performed cell-based studies that showed that the AP2S1 variants affected the extracellular calcium homeostasis.Created: 7 Dec 2018, 10:48 a.m.
Comment on list classification: Promoted from amber to green. AP2S1 is confirmed to be associated with type III hypocalciuric hypercalcemia on OMIM, but no phenotypes have been listed on Gene2Phenotype. There are only 3 reported AP2S1 missense variants (all changes in one amino acid) in unrelated patients from different countries with type III hypocalciuric hypercalcemia.Created: 5 Dec 2018, 5:14 p.m.
Publications for gene: AP2S1 were set to 23222959; 28176280; 24081735; 25993639; 26082470
Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III (600740) to Hypocalciuric hypercalcemia, type III, OMIM:600740
Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III (600740); FHH to Hypocalciuric hypercalcemia, type III (600740)
Ivone Leong: Comment on list classification
Gene: ap2s1 has been classified as Green List (High Evidence).
Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III (600740) to Hypocalciuric hypercalcemia, type III (600740); FHH
Publications for gene: AP2S1 were set to 23222959; 28176280
Gene: ap2s1 has been classified as Green List (High Evidence).
Publications for gene: AP2S1 were set to
gene: AP2S1 was added gene: AP2S1 was added to Hypocalciuric hypercalcaemia. Sources: Radboud University Medical Center, Nijmegen,UKGTN Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AP2S1 were set to Hypocalciuric hypercalcemia, type III (600740)