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 the power of 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 current awareness initiatives and areas of significant unmet diagnostic need - ranging from inherited vision loss and epilepsy to neuromuscular and autoinflammatory disorders.
These newly added genes are available to explore for free in Mastermind CORE through September 30, joining 23 clinically significant genes that remain permanently accessible 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 now access curated content for 33 genes, selected for their 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: Curated Genes Aligned with Rare Disease Awareness
As part of our quarterly update to Mastermind CORE, we’ve introduced 10 new high-impact genes, selected for their diagnostic relevance and alignment with rare disease awareness initiatives. These genes replace the previous quarter’s awareness-focused set and continue our mission to spotlight underrepresented conditions where variant-level evidence is especially critical.
This quarter’s additions span several key clinical areas - including inherited sensory loss, neurodevelopmental disorders, autoinflammatory conditions, and neuromuscular diseases. Each of these genes is associated with early-onset or multisystemic conditions where rapid, accurate interpretation can significantly impact patient outcomes.
- Inherited Vision and Hearing Disorders – Usher Syndrome
USH2A and PCDH15 are key genes involved in Usher syndrome, a dual sensory disorder characterized by progressive hearing and vision loss. Early identification supports timely intervention and care planning.
- Epileptic and Neurodevelopmental Disorders
PCDH19 is linked to early-onset epileptic encephalopathy, particularly in females, and often presents diagnostic challenges due to its X-linked inheritance.
SATB2 is associated with SATB2-Associated Syndrome, which involves developmental delay, speech impairment, and craniofacial abnormalities. It is recognized during SATB2 Awareness Day.
- Autoinflammatory Syndromes
MEFV is the primary gene involved in Familial Mediterranean Fever, a recurrent fever disorder featured during Autoinflammatory Awareness Month. Its inclusion reflects the growing need for curated data in autoinflammatory conditions.
- Inherited Retinal Disease
EYS is a leading cause of autosomal recessive retinitis pigmentosa, particularly in historically underrepresented populations. Its inclusion supports precision diagnostics in inherited vision loss.
- Neuromuscular and Myopathic Disorders
EMD is associated with Emery-Dreifuss muscular dystrophy, affecting both skeletal and cardiac muscle.
DNAJB2 is linked to Charcot-Marie-Tooth disease, a progressive peripheral neuropathy.
LMNA plays a role in multiple forms of limb-girdle muscular dystrophy and cardiomyopathy.
DYSF is implicated in dysferlinopathy, including limb-girdle muscular dystrophy type 2B.
These newly added genes are available in Mastermind CORE through September 30, offering immediate access to expertly curated variant insights. Each quarter, we continue rotating awareness-focused genes while maintaining a core set of 23 permanently accessible genes - ensuring both continuity and timely relevance for our users in clinical and research settings.
Always Available: 23 Long-Term Genes in Mastermind CORE
In addition to the rotating quarterly spotlight, 23 genes are permanently accessible in Mastermind CORE. These genes were selected for their strong diagnostic utility across a broad spectrum of genetic conditions and serve as a reliable foundation for variant interpretation.
They include:
- Hereditary Cancer: MLH1, PALB2
- Cardiac and Metabolic Disorders: MYH6, APOB, ALPL, TK2
- Complement-Mediated and Thrombotic Conditions: C3, CFH, CFI, CFB, CD46, THBD, DGKE
- Cholestasis and Bile Acid Metabolism: CYP7B1, CYP27A1, ABCC6
- Neuromuscular and 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.
Fig 1. 33 clinically significant genes currently available in Mastermind CORE
Why It Matters
For clinicians and researchers working with limited resources, access to expertly curated genomic data can make 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.
Questions? Contact us at support@genomenon.com or schedule a personalized walkthrough.
