Activity
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6 actions
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| Early onset or syndromic epilepsy v1.191 | TRPM6 | Rebecca Foulger Source Wessex and West Midlands GLH was added to TRPM6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.190 | TRPM6 | Rebecca Foulger Source NHS GMS was added to TRPM6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.189 | TRPM6 | Rebecca Foulger reviewed gene: TRPM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.188 | TRPM6 | Tracy Lester reviewed gene: TRPM6: Rating: GREEN; Mode of pathogenicity: ; Publications: 12032568; Phenotypes: Hypomagnesemia 1, intestinal, 602014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.914 | ATP1A1 |
Konstantinos Varvagiannis gene: ATP1A1 was added gene: ATP1A1 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP1A1 were set to 30388404 Phenotypes for gene: ATP1A1 were set to Hypomagnesemia; Seizures; Intellectual disability Penetrance for gene: ATP1A1 were set to unknown Review for gene: ATP1A1 was set to GREEN Added comment: PMID: 30388404 reports on 3 subjects from 3 families with de novo pathogenic variants in ATP1A1. All 3 presented with similar phenotype consisting of hypomagnesemia, early onset refractory seizures as well as intellectual disability. Alternative causes of hypomagnesemia with seizures (eg. due to TRPM6 mutations) were excluded while the phenotype of the 3 patients differed from similar disorder in that hypomagnesemia as well as seizures were not responsive to magnesium supplementation. Three different missense variants are reported (L302R, G303R, M859R) all as de novo occurences and after confirmation of paternity. Functional studies were suggestive of loss of the ATPase function, abnormal cation permeabilities as well as reduced level of expression (the latter was significant for at least for 2 of the 3 variants). Mutations in ATP1A1 have also been reported in patients with Charcot-Marie-Tooth type 2 (CMT2DD - MIM: 618036) although the variants reported to date map seem to cluster within the helical linker region (residues 592 to 608). The young age of the patients with epilepsy and intellectual disability did not allow conclusions on eventual peripheral neuropathy in these individuals. As a result this gene can be considered for inclusion in this panel as green (or amber). Sources: Literature, Expert Review |
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| Early onset or syndromic epilepsy | TRPM6 | Sarah Leigh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||