From 51b352a5b66a503770f6de4566080117a502df59 Mon Sep 17 00:00:00 2001
From: "Laurel (they/he)" <85411760+laurelhiatt@users.noreply.github.com>
Date: Mon, 29 Jul 2024 11:46:30 -0600
Subject: [PATCH 1/2] Update STRchive-database.json

---
 data/STRchive-database.json | 10 +++++-----
 1 file changed, 5 insertions(+), 5 deletions(-)

diff --git a/data/STRchive-database.json b/data/STRchive-database.json
index 621cfdb..6b6dbd4 100644
--- a/data/STRchive-database.json
+++ b/data/STRchive-database.json
@@ -1185,16 +1185,16 @@
         "Inheritance":"AD",
         "type":"Intronic",
         "location_in_gene":"Intron 1 (most isoforms)",
-        "normal":"0-16",
+        "normal":"0-30",
         "normal_min":0.0,
-        "normal_max":16.0,
+        "normal_max":30.0,
         "intermediate":null,
         "intermediate_min":null,
         "intermediate_max":null,
         "pathogenic":"31-75",
         "pathogenic_min":31.0,
         "pathogenic_max":75.0,
-        "ref_copies":16.6,
+        "ref_copies":0.0,
         "repeatunitlen":5,
         "age_onset":"Typical: 33-53; Range: 18-64 (GeneReview)",
         "age_onset_min":18,
@@ -1207,7 +1207,7 @@
         "Mechanism_source":"(OMIM)",
         "source":"Seixas et al 2017 AJHG, NBK541729, s40478-021-01201-x",
         "notes":"Novel. Normal: [(ATTTT)7\u2013400] Pathogenic: [(ATTTT)60\u201379(ATTTC)31\u201375(ATTTT)58\u201390], ATTTC within (ATTTT)7\u2013400 repeat region",
-        "details":null,
+        "details":"Pathogenicity only associated with pathogenic motif >30 repeats, flanked by at least 58 repeats of reference motif on either side; normal repeat can range from 1 to 400 repeats, although typically less than 30 (NBK541729). The pathogenic motif is unstable, particularly when transmitted by the father (NBK541729).",
         "width":81.0,
         "OMIM":"615945",
         "Prevalence":null,
@@ -3943,4 +3943,4 @@
         "GeneReviews":null,
         "Year":null
     }
-]
\ No newline at end of file
+]

From fb0a5afdaee224837d84baf0ff0656dcfdbc34e1 Mon Sep 17 00:00:00 2001
From: "Laurel (they/he)" <85411760+laurelhiatt@users.noreply.github.com>
Date: Sat, 3 Aug 2024 18:55:55 +0000
Subject: [PATCH 2/2] changed language to be more precise

---
 data/STRchive-database.json | 2 +-
 1 file changed, 1 insertion(+), 1 deletion(-)

diff --git a/data/STRchive-database.json b/data/STRchive-database.json
index 6b6dbd4..7785605 100644
--- a/data/STRchive-database.json
+++ b/data/STRchive-database.json
@@ -1207,7 +1207,7 @@
         "Mechanism_source":"(OMIM)",
         "source":"Seixas et al 2017 AJHG, NBK541729, s40478-021-01201-x",
         "notes":"Novel. Normal: [(ATTTT)7\u2013400] Pathogenic: [(ATTTT)60\u201379(ATTTC)31\u201375(ATTTT)58\u201390], ATTTC within (ATTTT)7\u2013400 repeat region",
-        "details":"Pathogenicity only associated with pathogenic motif >30 repeats, flanked by at least 58 repeats of reference motif on either side; normal repeat can range from 1 to 400 repeats, although typically less than 30 (NBK541729). The pathogenic motif is unstable, particularly when transmitted by the father (NBK541729).",
+        "details":"Pathogenicity only associated with pathogenic motif >30 repeats, flanked by at least 58 repeats of reference motif on either side; reference repeat (AAAAT) can range from 1 to 400 repeats, although typically less than 30 (NBK541729). The pathogenic motif is unstable, particularly when transmitted by the father (NBK541729).",
         "width":81.0,
         "OMIM":"615945",
         "Prevalence":null,