At Genomenon, we believe that accelerating progress in precision medicine starts with access - access to expertly curated evidence, variant-level clarity, and actionable insights that support accurate, timely clinical decisions. That’s the purpose behind Mastermind CORE, the free tier of our Genomic Intelligence Platform designed to bring expertly structured variant data to everyone.
This quarter, we’ve refreshed the rotating gene set in Mastermind CORE, spotlighting 10 new high-impact genes tied to areas of significant unmet diagnostic need - from neurodevelopmental disorders and pulmonary arterial hypertension to cystic fibrosis, osteogenesis imperfecta, and cancer predisposition.
These newly added genes are available to explore for free in Mastermind CORE through December 31, 2025, joining 23 clinically significant genes that remain long-term available in the platform.
A Platform Built for Purpose
Mastermind CORE opens the door to the world’s most comprehensive genomic evidence platform - delivering curated variant insights, gene-disease associations, and clinical context from over 10 million full-text articles.
While our PRO tier offers full access to 27 million variants and 19,000+ genes, CORE users can access curated content for 33 genes, selected for strong clinical utility across rare and inherited disorders.
Each quarter, we update a rotating set of 10 genes to reflect emerging research priorities and real-world clinical relevance, while maintaining a stable foundation of 23 core genes across oncology, neurology, cardiology, and metabolic disease.
This Quarter’s Rotation (Q4 2025): Curated Genes with High Clinical Impact
As part of our quarterly update to Mastermind CORE, we’ve introduced 10 new high-impact genes selected for diagnostic relevance in early-onset, multisystemic, or high-risk conditions where rapid, accurate interpretation can change care trajectories.
Neurodevelopmental & Epileptic Encephalopathy
- MECP2 - Rett syndrome; classic neurodevelopmental regression requiring precise variant interpretation to guide management.
- ARV1 - Epileptic encephalopathy; rare, severe phenotypes where curated evidence can accelerate diagnosis and counseling.
- SLC2A1 - GLUT1 deficiency syndrome; early identification enables dietary therapy decisions (e.g., ketogenic interventions).
Pulmonary Arterial Hypertension (PAH)
- KCNK3 - Ion channel gene implicated in heritable PAH; variant-level clarity informs risk, family screening, and therapy discussions.
- ENG - Endoglin; vascular involvement with PAH and HHT contexts, supporting nuanced clinical evaluation.
Respiratory & Ciliopathy-Related Disease
- CFTR - Cystic fibrosis; granular variant curation supports diagnosis, newborn screening follow-up, and therapy selection.
Skeletal & Connective Tissue Disorders
- COL1A1 and COL1A2 - Osteogenesis imperfecta; comprehensive evidence helps differentiate severity, guide surveillance, and inform family planning.
Neurology & Metabolic Interfaces
- GBA - Gaucher disease and Parkinson’s disease risk; robust literature ties genotype to phenotypic spectrum and counseling considerations.
Cancer Predisposition
- TP53 - Li-Fraumeni syndrome; high-stakes variants demand authoritative curation for surveillance and cascade testing.
These Q4 genes are available in Mastermind CORE through December 31, 2025, offering immediate access to expertly curated variant insights. Each quarter, we continue rotating awareness-aligned and clinically impactful genes while maintaining a core set of 23 long-term available genes - ensuring both continuity and timely relevance for clinicians and researchers.
Mastermind CORE’s Long-Term Access: A Core Set of 23 Genes
In addition to the quarterly rotation, 23 genes are long-term available in Mastermind CORE. Selected for strong diagnostic utility across a broad spectrum of genetic conditions, they provide a reliable foundation for variant interpretation:
Hereditary Cancer: MLH1, PALB2
Cardiac & Metabolic Disorders: MYH6, APOB, ALPL, TK2
Complement-Mediated & Thrombotic Conditions: C3, CFH, CFI, CFB, CD46, THBD, DGKE
Cholestasis & Bile Acid Metabolism: CYP7B1, CYP27A1, ABCC6
Neuromuscular & Neurodevelopmental Disorders: DNM2, LZTR1, PIK3CA, PIK3R1, PIK3CD, PCCB, TSHR
Combined with each quarter’s 10 rotating additions, these 33 high-impact genes offer a powerful starting point for variant interpretation in complex and rare disease areas - and we’re proud to provide open access to this expertly curated content for all Mastermind CORE users.
Why It Matters
For clinicians and researchers working with limited resources, access to expertly curated genomic data can be the difference between uncertainty and confident decision-making. Whether you’re resolving a VUS, building a targeted panel, or exploring rare disease mechanisms, Mastermind CORE helps you get to the right evidence - faster.
By linking variant data to literature-supported pathogenicity and gene–disease relationships, Mastermind supports scalable, high-quality interpretation workflows that prioritize both accuracy and efficiency.
Start Exploring Today
Mastermind CORE is available to anyone at no cost - designed to make curated genomic insights accessible to all.
Start exploring variant-level data and clinically relevant gene content today.
