Renal Tubulopathies and related disorders
Gene: TRPM7
Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.
PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.
PMID 35712613: de novo missense variant in an individual with hypoMg.
PMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.
Sources: Expert ReviewCreated: 16 Jan 2025, 10:20 p.m. | Last Modified: 16 Jan 2025, 10:21 p.m.
Panel Version: 1.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related
Publications
Gene: trpm7 has been classified as Green List (High Evidence).
Gene: trpm7 has been classified as Green List (High Evidence).
gene: TRPM7 was added gene: TRPM7 was added to Renal Tubulopathies and related disorders. Sources: Expert Review Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPM7 were set to 35561741; 35712613; 39099563 Phenotypes for gene: TRPM7 were set to Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related