[ { "category": "connected people", "source_date": "August 21, 2026", "count_id": "connected_people", "count": "Connected people", "value": 63, "unit": "people", "who_is_counted": "People connected through ASH1L.org whose information is represented in the de-identified group summaries as of August 21, 2026; repeat contacts for the same person count once.", "who_is_not_counted": "People not represented in the current group; repeat contacts are not counted as additional people.", "use_for": "Describing who is represented and which aggregate analyses are eligible.", "do_not_use_for": "Prevalence or universal phenotype percentages.", "reconciliation": "63 = 33 + 19 + 5 + 3 + 2 + 1." }, { "category": "connected people", "source_date": "August 21, 2026", "count_id": "female", "count": "Female", "value": 25, "unit": "people", "who_is_counted": "Recorded female among the connected people.", "who_is_not_counted": "Male.", "use_for": "Top-level description of who is represented.", "do_not_use_for": "Feature prevalence.", "reconciliation": "38 male + 25 female = 63." }, { "category": "connected people", "source_date": "August 21, 2026", "count_id": "male", "count": "Male", "value": 38, "unit": "people", "who_is_counted": "Recorded male among the connected people.", "who_is_not_counted": "Female.", "use_for": "Top-level description of who is represented.", "do_not_use_for": "Feature prevalence.", "reconciliation": "38 male + 25 female = 63." }, { "category": "connected people", "source_date": "August 21, 2026", "count_id": "countries_represented", "count": "Countries represented", "value": 19, "unit": "countries", "who_is_counted": "Distinct normalized country names recorded across the connected group.", "who_is_not_counted": "An unreported country does not create a country category.", "use_for": "Describing the geographic reach of the connected network.", "do_not_use_for": "Population frequency, prevalence, incidence, representativeness, or country-level clinical comparison.", "reconciliation": "19 named countries across 63 people; 0 country-unreported." }, { "category": "molecular", "source_date": "August 21, 2026", "count_id": "lof_total", "count": "LoF/truncating total", "value": 33, "unit": "people", "who_is_counted": "Top-level public molecular category is LoF/truncating.", "who_is_not_counted": "Other molecular categories.", "use_for": "Molecular architecture totals.", "do_not_use_for": "Protein-position plots without eligibility review.", "reconciliation": "33 total; 33 can be placed on the current single-position display." }, { "category": "molecular", "source_date": "August 21, 2026", "count_id": "lof_with_usable_position", "count": "LoF/truncating with a usable protein position", "value": 33, "unit": "people", "who_is_counted": "The LoF/truncating result can be placed consistently on the stated transcript and protein reference.", "who_is_not_counted": "No LoF/truncating result remains outside the current position display.", "use_for": "Protein-position and domain displays.", "do_not_use_for": "Total LoF burden.", "reconciliation": "33 of 33 people in the LoF/truncating category." }, { "category": "molecular", "source_date": "August 21, 2026", "count_id": "missense", "count": "Missense", "value": 19, "unit": "people", "who_is_counted": "Top-level public molecular category is missense.", "who_is_not_counted": "Other molecular categories.", "use_for": "Molecular architecture and position displays.", "do_not_use_for": "Feature prevalence.", "reconciliation": "33 display-positioned LoF + 19 missense = 52 people shown on the position map." }, { "category": "molecular", "source_date": "August 21, 2026", "count_id": "cnv_deletion", "count": "CNV/deletion", "value": 5, "unit": "people", "who_is_counted": "Top-level public molecular category is CNV/deletion.", "who_is_not_counted": "Other molecular categories.", "use_for": "Molecular architecture totals.", "do_not_use_for": "Sequence-position or phenotype inference.", "reconciliation": "5 of 63 connected people." }, { "category": "molecular", "source_date": "September 7, 2026", "count_id": "complex_mixed", "count": "Complex / mixed / in-frame", "value": 3, "unit": "people", "who_is_counted": "Two complex/mixed results and one separate in-frame deletion.", "who_is_not_counted": "Other molecular categories.", "use_for": "Molecular architecture totals.", "do_not_use_for": "Treating multiple molecular consequences as independent people.", "reconciliation": "3 = 2 complex/mixed + 1 in-frame deletion; one person counted once." }, { "category": "molecular", "source_date": "August 21, 2026", "count_id": "splice_protein_undefined", "count": "Splice/protein undefined", "value": 2, "unit": "people", "who_is_counted": "Top-level public molecular category is splice/protein-undefined.", "who_is_not_counted": "Other molecular categories.", "use_for": "Molecular architecture totals.", "do_not_use_for": "Protein-position analysis.", "reconciliation": "2 of 63 connected people." }, { "category": "molecular", "source_date": "August 21, 2026", "count_id": "pending_unresolved", "count": "Pending/unresolved", "value": 1, "unit": "people", "who_is_counted": "Top-level molecular status remains pending or unresolved.", "who_is_not_counted": "Resolved molecular categories.", "use_for": "Missing-information reconciliation only.", "do_not_use_for": "Molecular mechanism or phenotype inference.", "reconciliation": "1 of 63 connected people." }, { "category": "molecular", "source_date": "August 21, 2026", "count_id": "sequence_defined_single_allele", "count": "People eligible for exact-allele comparison", "value": 52, "unit": "people", "who_is_counted": "One sequence-defined ASH1L result is available for exact-allele review.", "who_is_not_counted": "Complex/mixed/in-frame results, CNV/deletions, protein-undefined splice findings, and pending findings.", "use_for": "Exact-allele comparison after separate checks for compatible reference normalization, relatedness, and repeated source entries.", "do_not_use_for": "Prevalence, independent-family counts, or automatic protein-position eligibility.", "reconciliation": "52 = 33 LoF/truncating + 19 single-missense results." }, { "category": "molecular", "source_date": "August 21, 2026", "count_id": "single_position_map", "count": "People shown on the single-position map", "value": 52, "unit": "people", "who_is_counted": "The map includes 33 display-positioned LoF/truncating results and 19 single-missense results.", "who_is_not_counted": "Complex/mixed/in-frame results, CNV/deletions, protein-undefined splice findings, and the pending finding.", "use_for": "Reading the public two-class protein-position map.", "do_not_use_for": "The analytic rule for exact-allele recurrence.", "reconciliation": "52 = 33 display-positioned LoF/truncating + 19 single-missense results." }, { "category": "molecular", "source_date": "September 7, 2026", "count_id": "exact_molecular_result_recorded", "count": "Molecular result recorded", "value": 62, "unit": "people", "who_is_counted": "A molecular description is recorded; independent verification of the complete result is separate.", "who_is_not_counted": "Notation not available or pending.", "use_for": "Description of available molecular information.", "do_not_use_for": "Original-report count.", "reconciliation": "62 of 63 molecular results recorded; 1 pending. Current original-report total not established." }, { "category": "source material", "source_date": "September 7, 2026", "count_id": "formal_molecular_reports", "count": "Original molecular reports available", "value": null, "unit": "people", "who_is_counted": "Current verified total not established; original reports and family-reported results are distinguished.", "who_is_not_counted": "Family-reported or missing original report.", "use_for": "Definition of the original molecular-report denominator; no numeric total is currently established.", "do_not_use_for": "All recorded molecular results.", "reconciliation": "Historical record indicators cannot establish an original molecular-report inventory. Reviewed September 7, 2026." }, { "category": "source material", "source_date": "September 7, 2026", "count_id": "original_source_material_available", "count": "Original source material available", "value": null, "unit": "people", "who_is_counted": "The current total with original source material is not established.", "who_is_not_counted": "People without an original source currently available.", "use_for": "Describing the breadth of original source material available.", "do_not_use_for": "Adding only the molecular-report and clinical-record groups to derive this broader count.", "reconciliation": "Historical record indicators cannot establish an original-source inventory. Reviewed September 7, 2026." }, { "category": "clinical", "source_date": "August 31, 2026", "count_id": "clinical_information_available", "count": "Clinical information available", "value": 53, "unit": "people", "who_is_counted": "At least one clinical feature is described.", "who_is_not_counted": "No clinical feature is described in the available information.", "use_for": "Feature-specific eligibility using sources that address the feature.", "do_not_use_for": "Feature prevalence across all connected people.", "reconciliation": "53 + 10 = 63." }, { "category": "clinical", "source_date": "August 31, 2026", "count_id": "clinical_information_not_available", "count": "Clinical information not available", "value": 10, "unit": "people", "who_is_counted": "No clinical feature is currently described in the available information.", "who_is_not_counted": "At least one clinical feature is described.", "use_for": "Missing-information accounting.", "do_not_use_for": "Evidence that the person is unaffected.", "reconciliation": "This is missing information, not a negative clinical finding. 53 + 10 = 63." }, { "category": "source material", "source_date": "August 31, 2026", "count_id": "original_clinical_records_available", "count": "Original clinical records available", "value": 21, "unit": "people", "who_is_counted": "At least one original clinical document beyond the genetic laboratory report is available for the person.", "who_is_not_counted": "No original clinical document beyond the genetic laboratory report is available.", "use_for": "Analyses explicitly requiring review of original clinical records.", "do_not_use_for": "The separate original molecular-report count.", "reconciliation": "21 people in the dated clinical-record group; current original molecular-report total is separately not established." }, { "category": "publication", "source_date": "August 21, 2026", "count_id": "publication_permission", "count": "Permission for de-identified publication use", "value": 23, "unit": "people", "who_is_counted": "People in the active group whose family or adult participant has given explicit permission for de-identified publication use.", "who_is_not_counted": "Everyone else in the active group.", "use_for": "Describing how many people may be included in de-identified publication work.", "do_not_use_for": "Clinical evidence, publication status, prevalence, or representativeness.", "reconciliation": "23 of the 63 active people had publication permission at the roster freeze; currently published profiles are tracked separately with their own publication date." }, { "category": "publication", "source_date": "August 31, 2026", "count_id": "published_case_profiles", "count": "Published case profiles", "value": 22, "unit": "profiles", "who_is_counted": "Family-reviewed, de-identified profiles currently published in the case-profile collection.", "who_is_not_counted": "People with publication permission whose profile is not published.", "use_for": "Describing what is currently available in the case-profile collection.", "do_not_use_for": "Adding to the 63 active people, group-wide clinical analysis, prevalence, or representativeness.", "reconciliation": "22 published profiles are included within 23 publication-permitted people and within 63 active people." }, { "category": "interpretation considerations", "source_date": "August 21, 2026", "count_id": "related_people", "count": "Related people", "value": 5, "unit": "people", "who_is_counted": "Connected people known to belong to the same family.", "who_is_not_counted": "People not known to be related or whose relationship is unresolved.", "use_for": "Methods that account for relatedness and non-independence.", "do_not_use_for": "Independent recurrence counts.", "reconciliation": "5 people in one known family group." }, { "category": "interpretation considerations", "source_date": "September 7, 2026", "count_id": "additional_findings", "count": "People with an additional finding recorded", "value": 21, "unit": "people", "who_is_counted": "An additional genetic or clinical finding is recorded for separate interpretation, including reported, unresolved, carrier and uncertain-significance findings.", "who_is_not_counted": "People without a recorded additional finding.", "use_for": "Comparisons that keep other possible explanations visible.", "do_not_use_for": "Confirmed additional diagnoses, number of findings, or attribution of phenotype to one molecular finding.", "reconciliation": "21 of 63 people; includes reported and unresolved findings, not confirmed additional diagnoses." }, { "category": "age", "source_date": "August 21, 2026", "count_id": "broad_age_or_life_stage_available", "count": "Broad age or life stage available", "value": 61, "unit": "people", "who_is_counted": "Enough age or life-stage information is available to place the person in a broad group.", "who_is_not_counted": "1 deceased person and 1 person whose age is not reported.", "use_for": "Broad age and life-stage description.", "do_not_use_for": "Exact-age comparison.", "reconciliation": "61 placed in a broad group + 1 deceased + 1 age not reported = 63." }, { "category": "age / life stage", "source_date": "August 21, 2026", "count_id": "adult_transition", "count": "People documented as adult or transition-age", "value": 18, "unit": "people", "who_is_counted": "The available information describes the person as adult or transition-age.", "who_is_not_counted": "People not described as adult or transition-age in the available information.", "use_for": "Adult and transition planning context.", "do_not_use_for": "A strict numeric-age threshold or population prevalence.", "reconciliation": "18 people are described as adult or transition-age; 1 does not have a numeric age reported." }, { "category": "atlas", "source_date": "August 31, 2026", "count_id": "person_by_area_information_entries", "count": "Person-by-area information entries", "value": 945, "unit": "entries", "who_is_counted": "Every connected person appears once in each of the 15 clinical areas.", "who_is_not_counted": "None; every entry records whether relevant information is available.", "use_for": "Understanding missing information and information availability across clinical areas.", "do_not_use_for": "Treating the entries as 945 findings, assessments, or independent people.", "reconciliation": "945 information entries = 63 people × 15 clinical areas." }, { "category": "longitudinal information", "source_date": "August 31, 2026", "count_id": "detailed_histories_over_time", "count": "People with detailed histories organized over time", "value": 15, "unit": "people", "who_is_counted": "Each person in this group has clinical information organized over time.", "who_is_not_counted": "Connected people without a detailed history organized over time.", "use_for": "Generating longitudinal research questions while preserving differences in the amount and timing of documentation.", "do_not_use_for": "Treating all 15 histories as uniformly detailed or equally long.", "reconciliation": "15 people have detailed histories organized over time; the amount and timing of available information differs by person." }, { "category": "longitudinal information", "source_date": "August 31, 2026", "count_id": "documented_changes", "count": "Documented changes with timing and course", "value": 23, "unit": "observations", "who_is_counted": "An entry describes a specific trigger or change and includes an age or date, affected systems, course, and confidence.", "who_is_not_counted": "Entries that say no specific trigger was shared, or that do not describe a distinct change.", "use_for": "Generating longitudinal questions about timing, affected systems, and course.", "do_not_use_for": "Counting independent people, estimating frequency, or making causal or treatment-effect claims.", "reconciliation": "The source histories and clinical-area table contain 23 entries that meet this definition." } ]