| Report component | Minimum number of sources | Preferred years (prioritize 2023-2024 + seminal) | Example query strings | Output fields enabled |
|---|---:|---|---|---|
| Identifiers (OMIM/Orphanet/MONDO) | 3 | Latest database release + seminal disease-definition papers | `SOX10 neurocristopathy spectrum OMIM`; `SOX10 Orphanet`; `SOX10 MONDO`; `SOX10 Waardenburg syndrome type 4C` | Preferred disease label, synonyms, OMIM/Orphanet/MONDO/MeSH/ICD IDs, disease classification |
| Phenotype spectrum / frequencies (case series) | 2-4 | 2023-2024 case series/reviews + foundational case reports/series | `SOX10 phenotype spectrum case series`; `SOX10 Waardenburg Hirschsprung case series`; `SOX10 PCWH clinical features` | HPO mappings, phenotype frequencies, age of onset, severity, progression, QoL notes |
| Genotype-phenotype correlations (cohort papers) | 2-3 | 2023-2024 cohort/genotype reviews + seminal correlation papers | `SOX10 genotype phenotype cohort`; `SOX10 variant spectrum Waardenburg Hirschsprung`; `SOX10 truncating missense phenotype` | Variant classes, recurrent variants, inheritance, penetrance/expressivity, phenotype correlation summaries |
| Mechanism (functional studies) | 2-4 | 2023-2024 mechanistic studies + seminal developmental biology papers | `SOX10 neural crest functional study`; `SOX10 enteric nervous system melanocyte Schwann cell`; `SOX10 myelination mechanism` | GO terms, pathway annotations, causal chain, affected cell types (CL), tissue mechanisms, protein dysfunction |
| Diagnostics / management (GeneReviews / guidelines) | 2-3 | Most recent GeneReviews/guidelines + key clinical reviews | `SOX10 GeneReviews`; `Waardenburg syndrome guideline hearing Hirschsprung`; `SOX10 diagnostic testing management` | Diagnostic criteria, differential diagnosis, recommended genetic tests, management pathway, MAXO treatment terms |
| Epidemiology (Orphanet / registries) | 2 | Most recent Orphanet/registry summaries + seminal epidemiology reviews | `SOX10 epidemiology Orphanet`; `Waardenburg syndrome type 4 prevalence registry`; `SOX10 rare disease prevalence` | Prevalence, incidence, demographic distribution, inheritance summaries, geographic notes |
| Model organisms (mouse / zebrafish papers) | 2-3 | 2023-2024 model updates + seminal mouse/zebrafish studies | `Sox10 mouse model Waardenburg Hirschsprung`; `sox10 zebrafish neural crest model`; `SOX10 iPSC model leukodystrophy` | Model system IDs, recapitulated phenotypes, mechanistic support, limitations, comparative biology fields |


*Table: This table outlines the minimum evidence package needed to complete a rigorous SOX10 neurocristopathy spectrum report. It helps prioritize which source types and search queries will unlock each major report field once literature retrieval is functioning.*