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

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

5 Conclusion

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

#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 

#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 

#DLG4 QA0.0149

#Usher H35.5

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

EVENTS!

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

CURE SYNGAP1 CONNECT

https://curesyngap1.org/curesyngap1connect/

SOCIAL MATTERS

- 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/ 

NEWLY DIAGNOSED?

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