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Renal tubulopathies v1.87 | AP2S1 | Eleanor Williams Classified gene: AP2S1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.87 | AP2S1 | Eleanor Williams Added comment: Comment on list classification: Sufficient cases to rate green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.87 | AP2S1 | Eleanor Williams Gene: ap2s1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.86 | AP2S1 | Eleanor Williams Publications for gene: AP2S1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.85 | AP2S1 | Eleanor Williams Mode of inheritance for gene: AP2S1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.82 | AP2S1 |
Eleanor Williams commented on gene: AP2S1: 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. |
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Renal tubulopathies v1.25 | AP2S1 | Eleanor Williams Phenotypes for gene: AP2S1 were changed from to Familial hypocalciuric hypercalcemia type III 600740 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.16 | AP2S1 | Eleanor Williams reviewed gene: AP2S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial hypocalciuric hypercalcemia type III MIM 600740; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.15 | AP2S1 |
Eleanor Williams gene: AP2S1 was added gene: AP2S1 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: AP2S1 was set to |