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| Renal tubulopathies v1.93 | CASR | Eleanor Williams Classified gene: CASR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.93 | CASR | Eleanor Williams Added comment: Comment on list classification: Promoting from red to green as there are sufficient cases reported in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.93 | CASR | Eleanor Williams Gene: casr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.92 | CASR | Eleanor Williams Added comment: Comment on publications: Publications from OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.92 | CASR | Eleanor Williams Publications for gene: CASR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.91 | CASR | Eleanor Williams Mode of inheritance for gene: CASR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.82 | CASR |
Eleanor Williams commented on gene: CASR: Associated with Hyperparathyroidism, neonatal (#239200), Hypocalcemia, autosomal dominant (#601198), Hypocalcemia, autosomal dominant, with Bartter syndrome (#601198) and Hypocalciuric hypercalcemia, type I (#145980) in OMIM. Many cases reported in OMIM. |
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| 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 v1.29 | CASR | Eleanor Williams Phenotypes for gene: CASR were changed from to Hypocalcemia, autosomal dominant, (with Bartter syndrome), 601198; Hypocalciuric hypercalcemia, type I, 145980; Hyperparathyroidism, neonatal, 239200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | CASR | Eleanor Williams reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypocalcemia, autosomal dominant, (with Bartter syndrome) MIM 601198, Hypocalciuric hypercalcemia, type I MIM 145980, Hyperparathyroidism, neonatal MIM 239200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | CASR |
Eleanor Williams gene: CASR was added gene: CASR was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: CASR was set to |
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