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OPDM1 Mechistic info #296

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Merged
hdashnow merged 2 commits into from
Nov 7, 2025
Merged

OPDM1 Mechistic info #296

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1dddc67
OPDM1 Mechistic info update
hdashnow Nov 7, 2025
cc87ca8
fix citation
hdashnow Nov 7, 2025
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6 changes: 3 additions & 3 deletions data/STRchive-loci.json
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Original file line number Diff line number Diff line change
Expand Up @@ -2397,7 +2397,7 @@
"typ_age_onset_max": 51.0,
"details": "Benign range (13-45) inferred from cohort data, but pathogenic range isn't yet fully understood [@genereviews:NBK535148]. In a cohort of 65 patients from 59 families, alleles ranged from 85-289 repeats, with an inverse relationship between size and age of onset [@pmid:34047774]. Inherited peripheral neuropathy (IPN) may be associated with shorter expansions [@pmid:39013564]. Interruptions seen: ACG, CCA [@pmid:35245110].",
"mechanism": "GoF?",
"mechanism_detail": "RNA mediated toxicity hypothesized [@omim:164310]; may involve RAN translation [@pmid:38467784].",
"mechanism_detail": "RNA mediated toxicity hypothesized [@omim:164310]; may involve RAN translation [@pmid:38467784]. Somatic mosicism and hypermethylation have also been reported [@pmid:41131788].",
"year": "2019 [@pmid:31332380]",
"location_in_gene": "5' UTR",
"gene_strand": "-",
Expand Down Expand Up @@ -2432,8 +2432,8 @@
"webstr_hg19": ["STR_1441036"],
"locus_tags": ["supported_evidence", "somatic_instability", "anticipation", "length_affects_onset"],
"disease_tags": ["oculopharyngodistal_myopathy"],
"references": ["pmid:34047774", "pmid:2124290", "omim:164310", "pmid:38467784", "genereviews:NBK535148", "pmid:39013564", "pmid:35245110", "pmid:38876750", "pmid:31332380", "pmid:39349043"],
"additional_literature": ["pmid:41131788", "pmid:41125376", "pmid:40645757", "pmid:40417202", "pmid:40084170", "pmid:38726482", "pmid:37923380", "pmid:37864208", "pmid:37339631", "pmid:36052448", "pmid:35700120", "pmid:35314910", "pmid:35152460", "pmid:35148830", "pmid:34927285", "pmid:33693509", "pmid:33374016", "pmid:33239111", "pmid:32493488", "pmid:27072820"]
"references": ["pmid:34047774", "pmid:2124290", "omim:164310", "pmid:38467784", "genereviews:NBK535148", "pmid:39013564", "pmid:35245110", "pmid:38876750", "pmid:31332380", "pmid:39349043", "pmid:41131788"],
"additional_literature": ["pmid:41125376", "pmid:40645757", "pmid:40417202", "pmid:40084170", "pmid:38726482", "pmid:37923380", "pmid:37864208", "pmid:37339631", "pmid:36052448", "pmid:35700120", "pmid:35314910", "pmid:35152460", "pmid:35148830", "pmid:34927285", "pmid:33693509", "pmid:33374016", "pmid:33239111", "pmid:32493488", "pmid:27072820"]
},
{
"id": "FAME3_MARCHF6",
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