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| Genetic Epilepsy v1.99 | TRPM7 |
Zornitza Stark gene: TRPM7 was added gene: TRPM7 was added to Genetic Epilepsy. Sources: Literature 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; 37188671 Phenotypes for gene: TRPM7 were set to Familial primary hypomagnesaemia, MONDO:0018100, TRPM7-related Review for gene: TRPM7 was set to GREEN Added comment: 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. PMID 37188671: mouse model investigating role in HypoMg and seizure-related death. Sources: Literature |
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| Genetic Epilepsy v0.504 | TRPM6 | Zornitza Stark Marked gene: TRPM6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.504 | TRPM6 | Zornitza Stark Gene: trpm6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.504 | TRPM6 | Zornitza Stark Classified gene: TRPM6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.504 | TRPM6 | Zornitza Stark Gene: trpm6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.503 | TRPM6 |
Zornitza Stark gene: TRPM6 was added gene: TRPM6 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal, MIM#602014 Review for gene: TRPM6 was set to GREEN gene: TRPM6 was marked as current diagnostic Added comment: Can present with seizures. Sources: Expert list |
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