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| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.18 | AP2S1 | Arina Puzriakova Publications for gene: AP2S1 were set to 25162666; 28740527; 26963950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.17 | AP2S1 | Arina Puzriakova Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III, 600740 to Hypocalciuric hypercalcemia, type III, OMIM:600740 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.16 | AP2S1 | Arina Puzriakova reviewed gene: AP2S1: Rating: ; Mode of pathogenicity: None; Publications: 33729479; Phenotypes: Hypocalciuric hypercalcemia, type III, OMIM:600740; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v1.3 | AP2S1 | Ivone Leong commented on gene: AP2S1: Submitted on behalf of Treen Cranston (Oxford): codon 15 should be covered. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 | AP2S1 | Ivone Leong commented on gene: AP2S1: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.25 | AP2S1 | Ivone Leong Marked gene: AP2S1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.25 | AP2S1 | Ivone Leong Gene: ap2s1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.25 | AP2S1 | Ivone Leong Classified gene: AP2S1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.25 | AP2S1 | Ivone Leong Added comment: Comment on list classification: Have given AP2S1 a green gene status as recommended by Treena Cranston's (Oxford) review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.25 | AP2S1 | Ivone Leong Gene: ap2s1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.24 | AP2S1 | Ivone Leong Publications for gene: AP2S1 were set to PMID: 25162666; PMID: 28740527 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.23 | AP2S1 | Ivone Leong Phenotypes for gene: AP2S1 were changed from FHH3; Hypocalciuric hypercalcemia, type III, 600740 to Hypocalciuric hypercalcemia, type III, 600740 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.22 | AP2S1 | Ivone Leong Mode of inheritance for gene: AP2S1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.21 | AP2S1 | Ivone Leong Phenotypes for gene: AP2S1 were changed from FHH3 to FHH3; Hypocalciuric hypercalcemia, type III, 600740 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | AP2S1 |
Treena Cranston gene: AP2S1 was added gene: AP2S1 was added to Familial hyperparathyroidism. Sources: Expert Review Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AP2S1 were set to PMID: 25162666; PMID: 28740527 Phenotypes for gene: AP2S1 were set to FHH3 Penetrance for gene: AP2S1 were set to unknown gene: AP2S1 was marked as current diagnostic Added comment: pathogenic mutations affecting codon 15 of AP2S1 are causative of FHH3. There can be clinical overlap between hyperparathyroidism and FHH and as such AP2S1, which is a simple test should be considered as part of the differential diagnosis. In our own cohort of individuals referred for the hyperparathyroidism panel we have detected 2 individuals with pathogenic AP2S1 variants (unpublished). Due to clinical overlap and clinical management of the different conditions, Inclusion of the FHH genes on hyperparathyroidism gene panel lists is a recommendation from an international workshop: Diagnosis of Asymptomatic Primary Hyperparathyroidism: Proceedings of the Fourth International Workshop PMID: 25162666 Sources: Expert Review |
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