Activity
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4 actions
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| Likely inborn error of metabolism v7.12 | TRPM7 |
Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: TRPM7. Tag Q1_25_ promote_green tag was added to gene: TRPM7. |
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| Likely inborn error of metabolism v7.11 | TRPM7 | Sarah Leigh Classified gene: TRPM7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.11 | TRPM7 | Sarah Leigh Gene: trpm7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.10 | TRPM7 |
Sarah Leigh gene: TRPM7 was added gene: TRPM7 was added to Likely inborn error of metabolism. Sources: Literature Q1_23_promote_green tags were added to gene: TRPM7. Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPM7 were set to 39099563; 35712613; 35561741 Phenotypes for gene: TRPM7 were set to hypomagnesaemia with secondary hypocalcaemia Review for gene: TRPM7 was set to GREEN Added comment: Heterozygous TRPM7 variants are associated with hypomagnesaemia with secondary hypocalcaemia (HSH)(PMID: 39099563; 35712613; 35561741). Six TRPM7 variants have been identified in six unrelated cases of HSH, one of the variants was found in three members of one family. The remaining variants were de novo. In addition to HSH, other phenotypic feature have been seen in those carrying TRPM7 variants, including seizures (4/6), motor skill defects (5/6), autism spectrum disorder (4/6) (PMID: 39099563; 35712613; 35561741). Functional studies suggest a loss of function effect of the TRPM7 variants (PMID: 39099563; 35561741). Sources: Literature |
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