ASH1 like histone lysine methyltransferase
ASH1L encodes a large, multi-domain chromatin regulator with separable recruitment, reader, catalytic, and chromatin-engagement functions.
Gene, protein & dosage →FAMILY-FOUNDED · INTERNATIONAL · EVIDENCE-LED
ASH1L, mapped across biology, body systems, and time.
A public clinical and translational research hub connecting a governed 61-person cohort with longitudinal evidence, public variant data, and testable biology—without separating a claim from its denominator, source, or uncertainty.
Current anchor61 de-identified people19 countriesevidence reviewed July 23, 2026
61active people
19countries represented
15clinical lanes
6molecular contexts
Roster-level architecture—not phenotype prevalence.
START HERE · WHAT IS ASH1L?
ASH1L is a dosage-sensitive chromatin-regulation gene.
Its established human disease association is neurodevelopmental. The open scientific question is how specific molecular findings change ASH1L function across cell types, developmental windows, physiological states, and time.
Reduced functional dosage can cause disease.
A disease-causing change in one copy can produce autosomal-dominant ASH1L-related neurodevelopmental disorder. Gene-level dosage evidence does not make every allele equivalent.
ClinGen dosage evidence ↗There is no single ASH1L presentation.
Development, communication, learning, behavior, sleep, movement, seizures, and broader multisystem findings vary across people and across age.
Genotype × phenotype × time →ONE COHORT · FOUR EVIDENCE DEPTHS
The denominator travels with every claim.
These are nested documentation depths, not four estimates of the same thing. A detailed result from a record-rich person cannot be promoted to the 61-person denominator.
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active roster
The full person-level anchor.
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phenotype-bearing profiles
At least one mapped clinical observation.
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record-backed minimum
The strict clinical-depth subset.
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deep longitudinal packets
Age-ordered, detail-rich reconstructions.
Core reading rule
Unreported is not negative. A mapped observation is not automatically record-backed. A recurring molecular finding is not automatically an independent family event.
Evidence, denominators & privacy →HOW THIS HUB READS ASH1L
No single view is enough.
Molecular architecture, clinical systems, chronology, and evidence class stay connected. Removing any one of them can create a stronger-looking but less valid conclusion.
- 01
Molecular context
LoF/truncating, missense, CNV/deletion, complex/mixed, splice/protein-undefined, and pending contexts are not analytically interchangeable.
Open this layer → - 02
Clinical system
Fifteen lanes preserve development, neurology, sleep, GI, ENT, movement, immune, autonomic, growth, medication, school, and adult function.
Open this layer → - 03
Time & physiological state
Age, illness, sleep, fuel state, hormones, procedures, medication, and recovery can change what is measurable.
Open this layer → - 04
Evidence class
Formal records, reported formal content, parent observation, controls, unresolved findings, and hypotheses remain visibly separate.
Open this layer →
SEVEN CLINICAL CHAPTERS · FIFTEEN LANES UNDERNEATH
A clinical index built for comparison—not a symptom checklist.
The chapter pages organize readable clinical domains. The underlying atlas preserves the full fifteen-lane evidence architecture and the exact mapping state for every person-lane cell.
01→02→03→04→05→06→07→
Development & memory
Milestones, learning, retention, retrieval, reliable access, regression, school, and adult function.
Neurology & seizures
Event types, EEG, sleep, unresolved spells, nonepileptic controls, triggers, and recovery.
Movement, gait & tics
Tone, feet, laterality, pain, tics, stereotypies, mobility, rehabilitation, and recovery.
Oral, GI, ENT & growth
Chewing, swallowing, dentition, bowel and fuel state, hearing, airway, growth, and bone.
Immune, skin & mucosa
Infection, antibody response, inflammatory assays, allergy, barrier tissues, bruising, and repair.
Cardiac & autonomic
Rhythm, ECG, syncope, orthostatic physiology, breathing, temperature, sweating, and urinary events.
Neurobehavioral & mental health
Diagnoses, anxiety, mood, aggression, rigidity, self-injury, sensory regulation, medical mimics, and treatment response.
BIOLOGY WITHOUT OVERREACH
From functional dosage to cell state: established, measured, and still unproven.
The Biology page separates the human-genetic anchor from direct molecular evidence, model-system findings, and the hypotheses that require patient-allele, time-resolved, rescue-supported experiments.
Established human evidence
ASH1L has a definitive autosomal-dominant neurodevelopmental gene–disease relationship, and haploinsufficiency is an established mechanism.
Measured experimental biology
Protein structure, chromatin biochemistry, neural-cell perturbation, and tissue models define specific functions and assays.
Active mechanistic questions
Allele, cell identity, developmental state, time course, and rescue must be connected before a shared mechanism can be claimed.
CURRENT PROGRAM
The cohort, molecular landscape, chronology, and research questions connect.
Each destination owns one analytic job. Summary pages link to the detail instead of reproducing it.
01
Cohort
Age, sex, countries, molecular architecture, and canonical subsets.
Who is represented →02Variants
Public molecular architecture, recurrence, familial structure, co-findings, and analytic boundaries.
Review the landscape →03Chronology
Age-anchored observations and load-state windows with incomplete pre/post capture left visible.
Follow change over time →04Open questions
Mechanism, natural history, modifiers, biomarkers, endpoints, and study design.
See what needs testing →START BY ROLE
A direct path for families, clinicians, and researchers.
01
EVIDENCE LIBRARYSearch the curated primary literature and canonical external resources →FAMILIES
Build a chronology and prepare the records that answer the next question.
Family guides →02CLINICIANS
Test new or episodic change before reducing it to behavior.
Clinician brief →03RESEARCHERS
Connect an assay or study design to a defined human signal.
Research program →FOR ASH1L FAMILIES
Join the independent parent working group.
Connect with other ASH1L parents. Community participation is separate from research consent or medical-record sharing.