| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Adrenal insufficiency v0.67 | CPOX | Chirag Patel Marked gene: CPOX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.67 | CPOX | Chirag Patel Gene: cpox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.67 | CPOX | Chirag Patel Classified gene: CPOX as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.67 | CPOX | Chirag Patel Gene: cpox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.66 | CPOX |
Chirag Patel gene: CPOX was added gene: CPOX was added to Adrenal insufficiency. Sources: Literature Mode of inheritance for gene: CPOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPOX were set to 40857591; 40481674; 40296768 Phenotypes for gene: CPOX were set to harderoporphyria, MONDO:0030048 Review for gene: CPOX was set to GREEN Added comment: ClinGen DEFINITIVE association (Jan 2023). Childhood‑onset primary adrenal insufficiency reported in 5 individuals from 4 unrelated families with biallelic loss‑of‑function CPOX variants, with 3 individuals also having 46,XY DSD (PMID 40296768 and 40481674). Sources: Literature |
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