MtdnaCurationFields

{
  "$schema": "https://json-schema.org/draft/2020-12/schema",
  "$id": "https://artifacts.apis.io/helena-bio/json-schema/helena-bio-mtdna-curation-fields-schema.json",
  "title": "MtdnaCurationFields",
  "description": "13 mtDNA curation data fields.\n\nAll optional -- used both as PATCH body (partial update; only provided\nfields are persisted) and as GET response payload (all fields surfaced\nwith current stored values, None for unpopulated criteria).\n\nField-level validators encode McCormick 2020 Table 1 strength tiers\nand non-negative count invariants. Server-side defense-in-depth:\ndomain entity also re-validates in __post_init__ (single source of\ntruth for invariants).",
  "x-generated": "2026-10-29",
  "x-method": "derived",
  "x-generator": "derive-json-schema.py",
  "x-source": "openapi/helena-bio-openapi.json#/components/schemas/MtdnaCurationFields",
  "properties": {
    "mt_ps2_strength": {
      "anyOf": [
        {
          "type": "string",
          "pattern": "^(VeryStrong|Strong|Moderate|Supporting)$"
        },
        {
          "type": "null"
        }
      ],
      "title": "Mt Ps2 Strength",
      "description": "PS2 (de novo) strength: VeryStrong/Strong/Moderate/Supporting"
    },
    "mt_ps3_evidence": {
      "anyOf": [
        {
          "type": "string",
          "maxLength": 5000
        },
        {
          "type": "null"
        }
      ],
      "title": "Mt Ps3 Evidence",
      "description": "PS3 functional studies evidence (cybrid + ETC <20% + load >=60%)"
    },
    "mt_ps4_proband_count": {
      "anyOf": [
        {
          "type": "integer",
          "minimum": 0.0
        },
        {
          "type": "null"
        }
      ],
      "title": "Mt Ps4 Proband Count",
      "description": "PS4 unrelated proband count"
    },
    "mt_ps4_haplogroup_diversity_count": {
      "anyOf": [
        {
          "type": "integer",
          "minimum": 0.0
        },
        {
          "type": "null"
        }
      ],
      "title": "Mt Ps4 Haplogroup Diversity Count",
      "description": "PS4 distinct top-level haplogroup count among probands"
    },
    "mt_pm6_strength": {
      "anyOf": [
        {
          "type": "string",
          "pattern": "^(VeryStrong|Strong|Moderate|Supporting)$"
        },
        {
          "type": "null"
        }
      ],
      "title": "Mt Pm6 Strength",
      "description": "PM6 (de novo without maternity confirmation) strength"
    },
    "mt_pp1_maternal_member_count": {
      "anyOf": [
        {
          "type": "integer",
          "minimum": 0.0
        },
        {
          "type": "null"
        }
      ],
      "title": "Mt Pp1 Maternal Member Count",
      "description": "PP1 maternal family member count"
    },
    "mt_pp1_homoplasmic_in_all": {
      "anyOf": [
        {
          "type": "boolean"
        },
        {
          "type": "null"
        }
      ],
      "title": "Mt Pp1 Homoplasmic In All",
      "description": "PP1 disqualifier: TRUE when variant is homoplasmic in all maternal members (segregation evidence cannot establish pathogenicity per ClinGen mtDNA VCEP v1.0.0; PP1 suppressed and Cat M7a audit fires)."
    },
    "mt_pp1_heteroplasmy_correlation": {
      "anyOf": [
        {
          "type": "boolean"
        },
        {
          "type": "null"
        }
      ],
      "title": "Mt Pp1 Heteroplasmy Correlation",
      "description": "PP1 heteroplasmy correlates with disease severity"
    },
    "mt_pp4_etc_deficiency": {
      "anyOf": [
        {
          "type": "string",
          "maxLength": 5000
        },
        {
          "type": "null"
        }
      ],
      "title": "Mt Pp4 Etc Deficiency",
      "description": "PP4 ETC enzyme deficiency evidence (<20% activity)"
    },
    "mt_bs2_strength": {
      "anyOf": [
        {
          "type": "string",
          "pattern": "^(Strong|Supporting)$"
        },
        {
          "type": "null"
        }
      ],
      "title": "Mt Bs2 Strength",
      "description": "BS2 (heteroplasmy in healthy adult) strength: Strong or Supporting"
    },
    "mt_bs3_evidence": {
      "anyOf": [
        {
          "type": "string",
          "maxLength": 5000
        },
        {
          "type": "null"
        }
      ],
      "title": "Mt Bs3 Evidence",
      "description": "BS3 functional studies evidence (no effect)"
    },
    "mt_bs4_evidence": {
      "anyOf": [
        {
          "type": "string",
          "maxLength": 5000
        },
        {
          "type": "null"
        }
      ],
      "title": "Mt Bs4 Evidence",
      "description": "BS4 lack of segregation OR paternal segregation"
    },
    "mt_bp5_evidence": {
      "anyOf": [
        {
          "type": "string",
          "maxLength": 5000
        },
        {
          "type": "null"
        }
      ],
      "title": "Mt Bp5 Evidence",
      "description": "BP5 mtDNA variant in nDNA-related disease case"
    }
  },
  "type": "object"
}