Activity
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8 actions
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| Fetal anomalies v5.16 | TRPM7 | Achchuthan Shanmugasundram commented on gene: TRPM7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | TRPM7 | Sarah Graham reviewed gene: TRPM7: Rating: RED; Mode of pathogenicity: ; Publications: 31423533, 39621058, 35561741, 39099563, 35712613; Phenotypes: Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to, MIM#105500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | TRPM7 |
Achchuthan Shanmugasundram Source NHS GMS was added to TRPM7. Source Expert Review Red was added to TRPM7. Added phenotypes Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to, OMIM:105500 for gene: TRPM7 Publications for gene: TRPM7 were updated from 32503408; 31423533 to 39099563; 39621058; 35712613; 35561741; 31423533; 32503408 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v1.100 | TRPM7 | Eleanor Williams Classified gene: TRPM7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.100 | TRPM7 | Eleanor Williams Added comment: Comment on list classification: Adding this gene as amber. This gene should be reviewed for relevance on phenotypic grounds | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.100 | TRPM7 | Eleanor Williams Gene: trpm7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.99 | TRPM7 | Eleanor Williams reviewed gene: TRPM7: Rating: AMBER; Mode of pathogenicity: None; Publications: 32503408, 31423533; Phenotypes: Cardiac arrhythmia, stillbirth; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.95 | TRPM7 |
Zornitza Stark gene: TRPM7 was added gene: TRPM7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPM7 were set to 32503408; 31423533 Phenotypes for gene: TRPM7 were set to Cardiac arrhythmia, stillbirth Review for gene: TRPM7 was set to AMBER Added comment: I am not sure if genes linked to stillbirth belong on this panel. This gene encodes an ion channel expressed in the nervous and cardiac systems. It has previously been associated with ALS/dementia in the Guam population, but the variant in question, p.Thr1482Ile is present in >23,000 hets in gnomad, which is out of keeping for a rare Mendelian disorder. Note recent publication associating missense variants with cardiac arrhythmia and stillbirth, with some functional data provided to substantiate effect of variant on protein function but not necessarily establish gene-disease association. Sources: Literature |
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