ASH1L GENE · ASH1L-RELATED DISORDER

ASH1L Gene and ASH1L-Related Neurodevelopmental Disorder

A diagnosis names ASH1L. The story unfolds over time.

ASH1L is a dosage-sensitive chromatin-regulation gene. Pathogenic variants can cause an autosomal-dominant syndromic neurodevelopmental disorder, often called ASH1L-related syndrome. ASH1L.org connects family histories, clinical records, variant biology, and research questions so no family has to piece the whole story together alone.

ASH1L AT A GLANCE

What is ASH1L?

ASH1L is a chromatin-regulation gene whose approved full name is ASH1 like histone lysine methyltransferase. It is also known as KMT2H.

GENOMIC LOCATION: 1q22Chromosome 1
INHERITANCE: Autosomal dominantOne disease-causing allele can be sufficient.
ESTABLISHED GENE-LEVEL MECHANISM: HaploinsufficiencyOne functional copy is not enough.
ASSOCIATED CONDITION: ASH1L-related neurodevelopmental disorder
ALSO CALLED: MRD52Intellectual developmental disorder, autosomal dominant 52

These are gene-level facts. They do not predict an individual course or establish the effect of every reported variant.

FEATURED ON ASH1L.ORG

Start with a record, a researcher’s answer, or a family perspective.

Three ways into the same work: preserve the human course, keep interpretation honest, and turn what remains unknown into a testable question.

FAMILY-APPROVED CASE PROFILES

Explore 22 complete longitudinal profiles.

Follow de-identified histories alongside exact ASH1L molecular results, with protein positions where defined.

Open case profiles

RESEARCH CONVERSATIONS

Follow the questions with the researchers answering them.

Read complete written exchanges about model validity, diagnosis, care, and the studies that should come next.

Choose a conversation

FAMILY PERSPECTIVE

See what changes when histories are compared over time.

A first-person account of what families can make visible across age, body systems, interventions, and recovery.

Read what families are seeing

HOW THE EVIDENCE CONNECTS

Keep the person, the allele, and the study design in view.

The hub does not collapse every source into one answer. It keeps observation and mechanism separate enough to design the next study.

HUMAN COURSE

Development, health, function, and recovery across time

A 15-area structure preserves baseline, surrounding state, what changed, how it was measured, what happened next, and what remains unknown.

Review natural history

QUESTION READY TO TEST · NATURAL HISTORYWhich trajectories remain after age, sex, variant class, and documentation are matched?

Build prospective measures around acquisition, access, plateau, event-related change, recovery, and new baseline—not a single undifferentiated symptom total.

MOLECULAR ARCHITECTURE

Variant class, position, relatedness, and additional findings

Loss-of-function, missense, CNV, complex, familial, additional, and unresolved findings remain distinct so unlike results are not treated as equivalent.

Explore variants

QUESTION READY TO TEST · ALLELE FUNCTIONWhat does each patient allele actually do?

Measure dosage, localization, chromatin effects, catalytic or domain-specific function, cell-state dependence, and rescue instead of assuming every missense allele behaves like haploinsufficiency.

MECHANISM & STUDY DESIGN

Alleles, cell states, tissues, assays, and prospective outcomes

Human observations shape questions. Patient-allele models, matched controls, repeated measures, rescue, and independent replication are needed to test them.

Open the research program

QUESTION READY TO TEST · STATE & RECOVERYWhich body-state windows change access to function?

Test sleep, seizures, pain, bowel and fuel state, illness, hormones, medication, anesthesia, and recovery with predefined outcomes and appropriate alternative explanations.

Research begins where the current evidence stops.The staged program names what can advance, what must stay provisional, and what would stop a proposed link.

BUILT BY THE ASH1L COMMUNITY

No one person is the whole story.

This work exists because people with ASH1L and their families have shared questions, observations, records, translations, corrections, and time. Families make the longitudinal record possible; clinicians help define and measure it; researchers bring the methods that can test it.

Founded by

Abbey Soyars · Carly Clifford · Franci Krasko

Meet the co-founders