Original clinical or laboratory record
An original report, result, imaging study, EEG, examination, or signed clinical record. It supports only what that source measured and reported.
METHODS · PRIVACY
Clear counts, clear evidence, and careful privacy.
ASH1L.org brings together information about 63 connected people. The full group is not automatically the right comparison group for every question, and missing information is never treated as a negative finding.
Missing is not negative. People, records, variants, observations, and profiles are different units. Permission is not clinical evidence. Chronology can shape a question, but it cannot prove cause.
WHO AND WHAT IS BEING COUNTED
Use the smallest group that can answer the question.
The 63-person connected group is not a population sample or prevalence cohort. Every page names the people, records, variants, studies, or profiles included in its number.
- 63
- people in the active connected group
- 62
- people with a molecular result recorded
- 52
- people in exact-allele comparison
- 30
- people in the narrower primary protein-position analysis
- 52
- people shown on the single-position protein map
- 22
- family-reviewed profiles currently published
An exact molecular notation, an original laboratory report, and an original clinical record are different kinds of information. A count is used only for the question its available information can answer.
Protein and domain comparisons use sequence-defined results. CNV/deletions, complex or mixed findings, protein-undefined splice findings, pending results, related people, and additional findings remain visible but separate.
EVIDENCE LABELS
Facts, observations, permission, and hypotheses stay separate.
A label identifies where a statement came from and what role it serves. It does not turn timing into cause or one result into a whole-person conclusion.
Family-reported clinical result
A diagnosis, test result, or other formal information shared by a family when the original document is not available.
Family- or individual-observed history
Direct caregiver or individual observation of function, timing, context, recurrence, response, or recovery.
Photo, video, or audio
Media that may support review when its context is clear and the person or family has agreed it may be used.
Permission or consent information
Permission determines whether information may be used or published. It is not clinical evidence.
Research question or hypothesis
A proposed explanation or testable question—not an observed clinical fact.
MISSING INFORMATION · UNCERTAINTY
Silence, uncertainty, and a documented negative are different states.
- Not reported
- The available information does not address the question.
- Not assessed
- No assessment for that question is documented.
- Unresolved
- The question was raised, but no conclusion is available.
- Formally negative
- An original source explicitly reported a negative or within-range result for a defined assessment and time point.
Variants of uncertain significance remain uncertain. A VUS is not treated as a confirmed diagnosis, proof of causation, or an independent recurrence.
Additional findings remain visible. They may affect interpretation, but they are not counted as additional ASH1L cases or forced into an ASH1L-only explanation.
Follow change over time. Baseline, context, change, measurement, action, and recovery are kept together in the natural-history framework.
PUBLICATION & PRIVACY
Permission comes first; publication requires a finished family review.
22 family-reviewed profiles are currently published. A profile appears only after private preparation, family review, and approval of the finished wording.
- 01
Permission
A person or family may permit de-identified information to be prepared for publication. Permission alone does not publish a profile.
- 02
Private preparation
A variant-first draft is organized from the available history and records.
- 03
Family review
The family may correct, add, remove, or decline any content.
- 04
Final approval
A profile appears publicly only after the family approves the finished wording.
What public profiles protect
Published profiles exclude names, photographs, private identifiers, contact information, exact current ages, and unnecessary identifying detail. Private review pages, publication decisions, contact details, and unpublished drafts remain private.
The complete connected-person molecular roster is not public. Public cohort downloads contain aggregate counts and clinical-area coverage only. Exact connected-person molecular notation is shown only in separately approved case profiles. The downloadable 234-entry variant sourcebook is a separately governed collection of external literature and database entries; it is not the 63-person connected cohort and does not identify cohort membership.
De-identified does not mean anonymous. A rare variant combined with sex, age group, country, or a distinctive history may still be recognizable. Countries are shown only in aggregate and are not linked to a person, family, variant, or clinical history.
Each profile is one longitudinal history. It is not a prevalence estimate, prognosis, diagnosis, treatment recommendation, or representative sample of all 63 people.
Explore the published profiles