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.A1
Blog: 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=tZ5s5rQawXg
Read the case study: https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13
Hear from other leaders: https://effieparks.com/podcast/episode-224-the-complicated-world-of-icd10-codes-with-ceo-and-co-founder-of-slc6a1-connect-amber-freed
Why 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-dQS0
Preprint: https://www.medrxiv.org/content/10.1101/2025.09.12.25335652v1.full.pdf
TABLE 1. List of monogenic epilepsies with a syndrome-specific ICD-10 code, associated
genes, and code implementation dates.
Syndrome ICD-10 Code Gene Effective Date21
Rett syndrome F84.2 MECP2 10/01/2015
Glucose transporter protein type 1 deficiency syndrome (GLUT1-DS) E74.810 SLC2A1 10/01/2020
Cyclin-dependent kinase-like 5 deficiency disorder (CDD) G40.42 CDKL5 10/01/2020
Dravet syndrome G40.83 SCN1A 10/01/2020
SYNGAP1-related intellectual disability (SYNGAP1-ID) SYNGAP1 F78.A1 10/01/2021
MED13L syndrome Q87.85
MED13L 10/01/2023
Phelan-McDermid syndrome Q93.52 SHANK3 10/01/2023
SLC13A5 citrate transporter disorder E74.820 SLC13A5 10/01/2024
KCNQ2-related epilepsy G40.84 KCNQ2 10/01/2024
Kleefstra syndrome Q87.86 EHMT1 10/01/2024
Syndrome-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. Although uptake of syndrome-specific ICD-10 codes showed gradual improvement over time, additional efforts, including automated and patient-driven coding support and integration of structured genetic data, are needed to ensure accurate and consistent use. Broader, multi-institutional studies will be essential to validate these findings and to guide strategies that maximize the clinical and research utility of syndrome-specific ICD codes as precision medicine advances.
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
#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
#SLC6A1 QA0.0131 https://www.linkedin.com/posts/slc6a1connect_raredisease-icd10-genetics-activity-7374801222056411136-wmAZ
#STXBP1 QA0.0141 https://www.stxbp1disorders.org/news/stxbp1-has-an-icd-10-code
CombinedBRAIN 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-codes
Scramble this weekend in Greer, SC! https://donate.curesyngap1.org/event/scramble-for-syngap-2025/e667451
Conference on Dec 4 & 5 in Atlanta, don’t miss. https://donate.curesyngap1.org/event/cure-syngap1-conference-2025-hosted-by-srf/e661355
https://curesyngap1.org/curesyngap1connect/
- 4,376 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 1,450 YouTube. https://www.youtube.com/@CureSYNGAP1
- 11,285 Twitter https://twitter.com/cureSYNGAP1
- 46k Insta https://www.instagram.com/curesyngap1/
New families have resources here! https://syngap.fund/Resources
Podcasts, give all of these a five star review!
https://cureSYNGAP1.org/SRFApple
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 185 of #Syngap10 #CureSynGAP1
#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS
