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| Renal tubulopathies v1.178 | TRPM6 | Eleanor Williams Classified gene: TRPM6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.178 | TRPM6 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as > 3 cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.178 | TRPM6 | Eleanor Williams Gene: trpm6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.177 | TRPM6 | Eleanor Williams Classified gene: TRPM6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.177 | TRPM6 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as > 3 cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.177 | TRPM6 | Eleanor Williams Gene: trpm6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.176 | TRPM6 | Eleanor Williams Publications for gene: TRPM6 were set to 12032568 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.82 | TRPM6 |
Eleanor Williams commented on gene: TRPM6: Associated with Hypomagnesemia 1, intestinal #602014 in OMIM. PMID: 12032568 - Schlingmann et al 2002 - 5 families (2 Turkish, 1 Swedish, 1 Israeli, and 1 Albanian) with hypomagnesemia with secondary hypocalcemia and mutations in the TRPM6 gene. In three families the parents were consanguineous and the affected individuals had homozygous variants. In 2 non-consanguineous families the affected children were compound heterozygous for TRPM6 mutations. The age at onset of symptoms varied from 3 weeks to 4 months. Seizures were the first symptoms detected. They also identified TRPM6 expression in kidney, and they report that the individuals studied showed inappropriately high fractional magnesium excretion rates, indicating an additional role of impaired renal magnesium reabsorption in HSH. This is confirmed by the characterisation of a considerable renal leak of magnesium in HSH patients in an accompanying report. PubMed: 12032570 - Walder et al 2002 - identified homozygous mutations in each of six consanguineous families, and a heterozygous mutation in a nonconsanguineous family with Familial hypomagnesemia with secondary hypocalcemia. The search was narrowed to TPRM6 by homozygosity mapping and then identifying TRPM6 as a likely candidate gene. The gene was then sequenced in each of the families. 3 families were Bedouin kindreds from Israel with the same variant in a splice donor, the other families (each with different variants) were an Arab family from Greece, a family from Germany and 2 Arab families from Israel. PMID: 23942199 - Lainez et al. 2014 - report from five new missense mutations found in five patients with HSH. |
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| Renal tubulopathies v1.67 | TRPM6 | Eleanor Williams Phenotypes for gene: TRPM6 were changed from 602014 to Hypomagnesemia 1, intestinal, 602014 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | TRPM6 | Eleanor Williams reviewed gene: TRPM6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomagnesemia 1, intestinal, MIM 602014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | TRPM6 | Eleanor Williams Source NHS GMS was added to TRPM6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||