Nephrocalcinosis or nephrolithiasis

Gene: TRPM6

Red List (low evidence)

As far as I know that is not associated with nephrocalcinosis/lithiasis. It leads to increased urinary Mg excretion, which is typically considered a protective factor against stones

Created: 30 Oct 2019, 11:59 a.m. | Last Modified: 30 Oct 2019, 11:59 a.m.

Panel Version: 1.23

Comment on list classification: Demoting this gene from green to red. A PubMed search didn't find publications listing nephrocalicinosis/nephrolithiasis in association with this gene. Hypermagnesuria not hypomagnesemia is included on the eligibility statement for this disease.

Created: 6 Nov 2019, 4:07 p.m. | Last Modified: 7 Nov 2019, 11:21 p.m.

Panel Version: 1.50

Associated with Hypomagnesemia 1, intestinal #602014 (AR) in OMIM.

Pubmed search did not find any cases of patients with variants in TRPM6 and nepthrocalcinosis or nephrolithiosis.
Familial hypo-magnesemia with hypercalciuria and nephrocalcinosis is associated with CLDN16 and CLDN19 in OMIM.

PMID: 31448104 - Willows et al 2019 - 1 case of child with familial hypomagnesaemia presenting with seizures secondary to hypomagnesaemia. Found to have a homozygous missense mutation in TRPM6. NO NEPHROCALCINOSIS found.

Created: 20 Oct 2019, 11:35 p.m. | Last Modified: 20 Oct 2019, 11:35 p.m.

Panel Version: 1.20

Removed 'watchlist' tag as promoted to green.

Created: 31 Mar 2017, 10:54 p.m.

Comment on list classification: This was discussed internally and agreed this should be promoted as hypomagnesemia is included on the eligibility statement for this disease.

Created: 31 Mar 2017, 10:52 p.m.

This gene is green on the undiagnosed metabolic disorder panel for the same phenotype - promote to green on this panel?

Created: 15 Mar 2017, 3:34 p.m.