F78.A1,the code for #SYNGAP1, turns 4, make sure we use it. #ICD10 for #RareDisease Update. #S10e185

Wednesday, October 1st, 2025. Week 40.SYNGAP1 Related Disorders secured an ICD-10 code exactly four years ago today, through the advocacy of SRF and the hard work of volunteers like Hans Schlecht.  Our code is F78.A1Blog: https://curesyngap1.org/blog/syngap1-assigned-its-own-icd-10-code-f78-a1-srf/Check out #S10e8 to learn more: https://www.youtube.com/watch?v=tZ5s5rQawXgRead the case study: https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13Hear from other leaders: https://effieparks.com/podcast/episode-224-the-complicated-world-of-icd10-codes-with-ceo-and-co-founder-of-slc6a1-connect-amber-freedWhy does it matter and where are we now?  It helps us find patients and it helps doctors and companies find YOU.  We  aren’t where we should be.Dr. Lal’s sobering post: https://www.linkedin.com/posts/dennis-lal-71a8988a_raredisease-epilepsy-precisionmedicine-activity-7373307411383857152-dQS0Preprint: https://www.medrxiv.org/content/10.1101/2025.09.12.25335652v1.full.pdfTABLE 1. List of monogenic epilepsies with a syndrome-specific ICD-10 code, associatedgenes, and code implementation dates.Syndrome ICD-10 Code Gene Effective Date21Rett syndrome F84.2 MECP2 10/01/2015Glucose transporter protein type 1 deficiency syndrome (GLUT1-DS) E74.810 SLC2A1 10/01/2020Cyclin-dependent kinase-like 5 deficiency disorder (CDD) G40.42 CDKL5 10/01/2020Dravet syndrome G40.83 SCN1A 10/01/2020SYNGAP1-related intellectual disability (SYNGAP1-ID) SYNGAP1 F78.A1 10/01/2021 MED13L syndrome Q87.85 MED13L 10/01/2023Phelan-McDermid syndrome Q93.52 SHANK3 10/01/2023SLC13A5 citrate transporter disorder E74.820 SLC13A5 10/01/2024KCNQ2-related epilepsy G40.84 KCNQ2 10/01/2024Kleefstra syndrome Q87.86 EHMT1 10/01/20245 ConclusionSyndrome-specific ICD-10 codes for monogenic epilepsies are markedly underutilized, even for patients with confirmed molecular diagnoses and established clinical syndromes. In our cohort, fewer than two-thirds of eligible patients were ever documented with their syndrome-specific ICD-10 code, and when used, these codes were applied inconsistently across encounters, specialties, and time. Such gaps hinder the reliable identification of patients for precision therapies, clinical trials, and research studies, limiting the intended value of these codes....Who else got them?  New DEE Codes effective 10/1/2025! https://www.cdc.gov/nchs/icd/icd-10-cm/files.html#FOXG1 Q04.8 https://www.foxg1research.org/news/foxg1-syndrome-icd-10-code#Kabuki Q87.0#USP7 Q87.87 https://www.linkedin.com/posts/foundation-for-usp7-related-diseases_were-proud-to-share-an-important-milestone-activity-7375555189539348480-77n3 #CTNNB1 Q87.88 https://www.linkedin.com/posts/ctnnb1_ctnnb1-connectandcure-ctnnb1syndrome-activity-7376633308836683777-fRYC #SCN2A QA0.0101 https://www.scn2a.org/from-advocacy-to-action-scn2a-now-has-its-own-icd-10-code/#CACNA1A QA0.0102 https://www.linkedin.com/posts/cacna1a-foundation_huge-milestone-for-our-cacna1a-community-activity-7358883822282653696-xWr5 ....#DLG4 QA0.0149 #Usher H35.5CombinedBRAIN Rent a Neuro: https://combinedbrain.org/rent-a-neuroscientist/CB Slide on ICD-10: https://docs.google.com/presentation/d/1wys1RLbJWBtK9eh7xSd_Lm-xwqbeZMSnM7xcCQznE8M/edit?usp=sharing Everylife Roadmap: https://everylifefoundation.org/icd-code-roadmap/REN ICD-10 page: https://www.rareepilepsynetwork.org/about-icd-codesEVENTS!Scramble this weekend in Greer, SC! https://donate.curesyngap1.org/event/scramble-for-syngap-2025/e667451Conference on Dec 4 & 5 in Atlanta, don’t miss. https://donate.curesyngap1.org/event/cure-syngap1-conference-2025-hosted-by-srf/e661355CURE SYNGAP1 CONNECThttps://curesyngap1.org/curesyngap1connect/ NEWLY DIAGNOSED?New families have resources here! https://syngap.fund/Resources   ...Episode 185 of #Syngap10 #CureSynGAP1#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS